Multiple transmissions of de novo mutations in families View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-11-05

AUTHORS

Hákon Jónsson, Patrick Sulem, Gudny A. Arnadottir, Gunnar Pálsson, Hannes P. Eggertsson, Snaedis Kristmundsdottir, Florian Zink, Birte Kehr, Kristjan E. Hjorleifsson, Brynjar Ö. Jensson, Ingileif Jonsdottir, Sigurdur Einar Marelsson, Sigurjon Axel Gudjonsson, Arnaldur Gylfason, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Simon N. Stacey, Olafur Th. Magnusson, Unnur Thorsteinsdottir, Gisli Masson, Augustine Kong, Bjarni V. Halldorsson, Agnar Helgason, Daniel F. Gudbjartsson, Kari Stefansson

ABSTRACT

De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected 57.2% of ssDNMs in the parental blood. The recurrence probability of a DNM decreases by 2.27% per year for paternal DNMs and 1.78% per year for maternal DNMs. Maternal ssDNMs are more likely to be T>C mutations than paternal ssDNMs, and less likely to be C>T mutations. Depending on the properties of the DNM, the recurrence probability ranges from 0.011% to 28.5%. We have launched an online calculator to allow estimation of DNM recurrence probability for research purposes. More... »

PAGES

1-7

References to SciGraph publications

  • 2017-04. Building a lineage from single cells: genetic techniques for cell lineage tracking in NATURE REVIEWS GENETICS
  • 2017-09. Parental influence on human germline de novo mutations in 1,548 trios from Iceland in NATURE
  • 2008-06. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy in NATURE GENETICS
  • 2011-02. Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance in GENETICS IN MEDICINE
  • 2017-09-21. Whole genome characterization of sequence diversity of 15,220 Icelanders in SCIENTIFIC DATA
  • 2016-01-19. New observations on maternal age effect on germline de novo mutations in NATURE COMMUNICATIONS
  • 2016-02. Timing, rates and spectra of human germline mutation in NATURE GENETICS
  • 1999-04. Delete-m Jackknife for Unequal m in STATISTICS AND COMPUTING
  • 2017-11. Graphtyper enables population-scale genotyping using pangenome graphs in NATURE GENETICS
  • 2017-03. Somatic mutations reveal asymmetric cellular dynamics in the early human embryo in NATURE
  • 2012-03. Insights into hominid evolution from the gorilla genome sequence in NATURE
  • 2013-05. A genomic view of mosaicism and human disease in NATURE REVIEWS GENETICS
  • 2012-08. Rate of de novo mutations and the importance of father’s age to disease risk in NATURE
  • 2016-10. Specification and epigenetic programming of the human germ line in NATURE REVIEWS GENETICS
  • 2013-09. De novo mutations in epileptic encephalopathies in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9

    DOI

    http://dx.doi.org/10.1038/s41588-018-0259-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1107954796

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30397338


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1114", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Paediatrics and Reproductive Medicine", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "J\u00f3nsson", 
            "givenName": "H\u00e1kon", 
            "id": "sg:person.014263416547.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014263416547.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sulem", 
            "givenName": "Patrick", 
            "id": "sg:person.0773127601.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773127601.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Arnadottir", 
            "givenName": "Gudny A.", 
            "id": "sg:person.0777325667.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777325667.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "P\u00e1lsson", 
            "givenName": "Gunnar", 
            "id": "sg:person.012576612316.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012576612316.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eggertsson", 
            "givenName": "Hannes P.", 
            "id": "sg:person.07721544433.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07721544433.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kristmundsdottir", 
            "givenName": "Snaedis", 
            "id": "sg:person.012141210347.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012141210347.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zink", 
            "givenName": "Florian", 
            "id": "sg:person.01121255525.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121255525.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kehr", 
            "givenName": "Birte", 
            "id": "sg:person.01276523755.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276523755.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hjorleifsson", 
            "givenName": "Kristjan E.", 
            "id": "sg:person.016012657463.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016012657463.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jensson", 
            "givenName": "Brynjar \u00d6.", 
            "id": "sg:person.01045441067.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045441067.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jonsdottir", 
            "givenName": "Ingileif", 
            "id": "sg:person.01220643160.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220643160.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National University Hospital of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.410540.4", 
              "name": [
                "Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Marelsson", 
            "givenName": "Sigurdur Einar", 
            "id": "sg:person.01164462133.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164462133.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gudjonsson", 
            "givenName": "Sigurjon Axel", 
            "id": "sg:person.01025022663.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025022663.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gylfason", 
            "givenName": "Arnaldur", 
            "id": "sg:person.01061240155.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01061240155.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jonasdottir", 
            "givenName": "Adalbjorg", 
            "id": "sg:person.01023673114.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023673114.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jonasdottir", 
            "givenName": "Aslaug", 
            "id": "sg:person.0726475763.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726475763.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stacey", 
            "givenName": "Simon N.", 
            "id": "sg:person.0612752747.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612752747.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Magnusson", 
            "givenName": "Olafur Th.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.14013.37", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thorsteinsdottir", 
            "givenName": "Unnur", 
            "id": "sg:person.01277776417.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277776417.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Masson", 
            "givenName": "Gisli", 
            "id": "sg:person.01366065163.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366065163.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.14013.37", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kong", 
            "givenName": "Augustine", 
            "id": "sg:person.010001043302.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010001043302.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Reykjav\u00edk University", 
              "id": "https://www.grid.ac/institutes/grid.9580.4", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "School of Science and Engineering, Reykjavik University, Reykjav\u00edk, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Halldorsson", 
            "givenName": "Bjarni V.", 
            "id": "sg:person.01265161315.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265161315.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.14013.37", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "Department of Anthropology, University of Iceland, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Helgason", 
            "givenName": "Agnar", 
            "id": "sg:person.01071376774.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071376774.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.14013.37", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gudbjartsson", 
            "givenName": "Daniel F.", 
            "id": "sg:person.0637651205.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637651205.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Iceland", 
              "id": "https://www.grid.ac/institutes/grid.14013.37", 
              "name": [
                "CODE genetics/Amgen Inc., Reykjavik, Iceland", 
                "Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stefansson", 
            "givenName": "Kari", 
            "id": "sg:person.0723426172.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723426172.10"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1093/bioinformatics/btu033", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000848409"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2014.08.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001200342"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1008800423698", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002000075", 
              "https://doi.org/10.1023/a:1008800423698"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2005.00397.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003066037"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12439", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003744287", 
              "https://doi.org/10.1038/nature12439"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2015.05.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006032430"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.150", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007370144", 
              "https://doi.org/10.1038/ng.150"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e318202e0f6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008135924", 
              "https://doi.org/10.1097/gim.0b013e318202e0f6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e318202e0f6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008135924", 
              "https://doi.org/10.1097/gim.0b013e318202e0f6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2009.01173.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008289390"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2009.01173.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008289390"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.26.9.553", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012294360"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.aab1785", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017106459"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.aab1785", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017106459"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10842", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019463387", 
              "https://doi.org/10.1038/nature10842"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ncomms10486", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021691588", 
              "https://doi.org/10.1038/ncomms10486"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp352", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023014918"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3469", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023856595", 
              "https://doi.org/10.1038/ng.3469"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2014.07.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025227868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11396", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029300076", 
              "https://doi.org/10.1038/nature11396"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1521325113", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036047215"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038266369"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg.2016.88", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039236267", 
              "https://doi.org/10.1038/nrg.2016.88"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3424", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040973363", 
              "https://doi.org/10.1038/nrg3424"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3390/genes6020216", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043657568"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1098/rstb.2015.0137", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048149856"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302322", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609900"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302412", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609987"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg.2016.159", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1074201809", 
              "https://doi.org/10.1038/nrg.2016.159"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature21703", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084128594", 
              "https://doi.org/10.1038/nature21703"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature24018", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1091858020", 
              "https://doi.org/10.1038/nature24018"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature24018", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1091858020", 
              "https://doi.org/10.1038/nature24018"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sdata.2017.115", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1091875894", 
              "https://doi.org/10.1038/sdata.2017.115"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3964", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1091911912", 
              "https://doi.org/10.1038/ng.3964"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3964", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1091911912", 
              "https://doi.org/10.1038/ng.3964"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-11-05", 
        "datePublishedReg": "2018-11-05", 
        "description": "De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected 57.2% of ssDNMs in the parental blood. The recurrence probability of a DNM decreases by 2.27% per year for paternal DNMs and 1.78% per year for maternal DNMs. Maternal ssDNMs are more likely to be T>C mutations than paternal ssDNMs, and less likely to be C>T mutations. Depending on the properties of the DNM, the recurrence probability ranges from 0.011% to 28.5%. We have launched an online calculator to allow estimation of DNM recurrence probability for research purposes.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/s41588-018-0259-9", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "type": "Periodical"
          }
        ], 
        "name": "Multiple transmissions of de novo mutations in families", 
        "pagination": "1-7", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "737d6b17ea3168f5a9588e7e9924bd201fdea7f134090d663194484b54e45e1b"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30397338"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "9216904"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41588-018-0259-9"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1107954796"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41588-018-0259-9", 
          "https://app.dimensions.ai/details/publication/pub.1107954796"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T00:26", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8695_00000578.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/s41588-018-0259-9"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9'


     

    This table displays all metadata directly associated to this object as RDF triples.

    381 TRIPLES      21 PREDICATES      56 URIs      18 LITERALS      7 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41588-018-0259-9 schema:about anzsrc-for:11
    2 anzsrc-for:1114
    3 schema:author N816b2b96b5424169a4b7d86c4ccab20a
    4 schema:citation sg:pub.10.1023/a:1008800423698
    5 sg:pub.10.1038/nature10842
    6 sg:pub.10.1038/nature11396
    7 sg:pub.10.1038/nature12439
    8 sg:pub.10.1038/nature21703
    9 sg:pub.10.1038/nature24018
    10 sg:pub.10.1038/ncomms10486
    11 sg:pub.10.1038/ng.150
    12 sg:pub.10.1038/ng.3469
    13 sg:pub.10.1038/ng.3964
    14 sg:pub.10.1038/nrg.2016.159
    15 sg:pub.10.1038/nrg.2016.88
    16 sg:pub.10.1038/nrg3424
    17 sg:pub.10.1038/sdata.2017.115
    18 sg:pub.10.1097/gim.0b013e318202e0f6
    19 https://doi.org/10.1016/j.ajhg.2014.07.003
    20 https://doi.org/10.1016/j.ajhg.2014.08.010
    21 https://doi.org/10.1016/j.ajhg.2015.05.008
    22 https://doi.org/10.1073/pnas.1521325113
    23 https://doi.org/10.1086/302322
    24 https://doi.org/10.1086/302412
    25 https://doi.org/10.1093/bioinformatics/btp324
    26 https://doi.org/10.1093/bioinformatics/btp352
    27 https://doi.org/10.1093/bioinformatics/btu033
    28 https://doi.org/10.1098/rstb.2015.0137
    29 https://doi.org/10.1111/j.1399-0004.2005.00397.x
    30 https://doi.org/10.1111/j.1399-0004.2009.01173.x
    31 https://doi.org/10.1126/science.aab1785
    32 https://doi.org/10.1136/jmg.26.9.553
    33 https://doi.org/10.3390/genes6020216
    34 schema:datePublished 2018-11-05
    35 schema:datePublishedReg 2018-11-05
    36 schema:description De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected 57.2% of ssDNMs in the parental blood. The recurrence probability of a DNM decreases by 2.27% per year for paternal DNMs and 1.78% per year for maternal DNMs. Maternal ssDNMs are more likely to be T>C mutations than paternal ssDNMs, and less likely to be C>T mutations. Depending on the properties of the DNM, the recurrence probability ranges from 0.011% to 28.5%. We have launched an online calculator to allow estimation of DNM recurrence probability for research purposes.
    37 schema:genre research_article
    38 schema:inLanguage en
    39 schema:isAccessibleForFree false
    40 schema:isPartOf sg:journal.1103138
    41 schema:name Multiple transmissions of de novo mutations in families
    42 schema:pagination 1-7
    43 schema:productId N04c49d6d61f34f19a9eb2d44d937a722
    44 N351464874e5443d387d841b0d160f73f
    45 N861cd90c06b544c6bd42b31200f51700
    46 N9d2108dd6abd4a3581d8334d81444a4f
    47 Nd24e62332b5c4f38b691c9d2c4532d4d
    48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107954796
    49 https://doi.org/10.1038/s41588-018-0259-9
    50 schema:sdDatePublished 2019-04-11T00:26
    51 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    52 schema:sdPublisher N3b4a07c0168e4210bc03a72a33aa7c3a
    53 schema:url https://www.nature.com/articles/s41588-018-0259-9
    54 sgo:license sg:explorer/license/
    55 sgo:sdDataset articles
    56 rdf:type schema:ScholarlyArticle
    57 N04c49d6d61f34f19a9eb2d44d937a722 schema:name dimensions_id
    58 schema:value pub.1107954796
    59 rdf:type schema:PropertyValue
    60 N12168781d742402bb1f514a71c8fe3bc schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    61 rdf:type schema:Organization
    62 N1461bbfcd3e34bf8aa2fe5aa83bb53b2 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    63 rdf:type schema:Organization
    64 N2289bb7ce3464b0f9e20be64c14a8d32 rdf:first sg:person.01025022663.19
    65 rdf:rest Ndbd2f25bff5a4386b3862018cb3cb96d
    66 N3000f469feb744fe80aa192126d9f65a schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    67 rdf:type schema:Organization
    68 N303c5db96d674975b4ac64ea4d965d37 rdf:first sg:person.01023673114.90
    69 rdf:rest N899d3b24374e43b28ac7c7d037003d7b
    70 N334d2a9e23834273b0ab880aa82c35a1 rdf:first sg:person.01276523755.34
    71 rdf:rest Ne1d2ed2c54cf42888fcbd03ad79eae7e
    72 N351464874e5443d387d841b0d160f73f schema:name pubmed_id
    73 schema:value 30397338
    74 rdf:type schema:PropertyValue
    75 N3b4a07c0168e4210bc03a72a33aa7c3a schema:name Springer Nature - SN SciGraph project
    76 rdf:type schema:Organization
    77 N3ce10667090c4267b6decbc9fb2f59b7 rdf:first sg:person.0637651205.48
    78 rdf:rest Nf67638c8c0a449bdb376f121455bbc85
    79 N404adde084724f51bbd97b1bb3a082a8 rdf:first sg:person.01071376774.64
    80 rdf:rest N3ce10667090c4267b6decbc9fb2f59b7
    81 N414c357a075946f695d68ec987c38cb4 rdf:first sg:person.012141210347.48
    82 rdf:rest N586a172dd9c4454dba56c645cbf46cf8
    83 N46fb74a93058492cbe48f2b88dbca443 rdf:first sg:person.07721544433.41
    84 rdf:rest N414c357a075946f695d68ec987c38cb4
    85 N49aa48e31e8940b78899818c6126651c schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    86 rdf:type schema:Organization
    87 N51ceecb0d125478db04be5ffc5fb28e1 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    88 rdf:type schema:Organization
    89 N554932fa0f0d4791a88b6ce0c304b2d2 rdf:first sg:person.01265161315.61
    90 rdf:rest N404adde084724f51bbd97b1bb3a082a8
    91 N56cc0b1f4ca44960af142e1f6ded2fd8 rdf:first sg:person.01164462133.08
    92 rdf:rest N2289bb7ce3464b0f9e20be64c14a8d32
    93 N586a172dd9c4454dba56c645cbf46cf8 rdf:first sg:person.01121255525.11
    94 rdf:rest N334d2a9e23834273b0ab880aa82c35a1
    95 N645fd5daa0664a8b81f85c2d437961cd rdf:first sg:person.0773127601.34
    96 rdf:rest N6dea365e1eb74927aedd5610e2b9c950
    97 N64e36d596daa4e49bbeb59e1131a09e3 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    98 rdf:type schema:Organization
    99 N6dea365e1eb74927aedd5610e2b9c950 rdf:first sg:person.0777325667.55
    100 rdf:rest N7dec0b0807624a8996faa5445977faf0
    101 N6f6286c89599448e956f1c81961e39cc schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    102 rdf:type schema:Organization
    103 N7a4715cead1744e08a7a6cf5dc04fecc schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    104 rdf:type schema:Organization
    105 N7cf2ddd3c4204b2a9e2c1075757ae56a schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    106 rdf:type schema:Organization
    107 N7dec0b0807624a8996faa5445977faf0 rdf:first sg:person.012576612316.51
    108 rdf:rest N46fb74a93058492cbe48f2b88dbca443
    109 N816b2b96b5424169a4b7d86c4ccab20a rdf:first sg:person.014263416547.25
    110 rdf:rest N645fd5daa0664a8b81f85c2d437961cd
    111 N861cd90c06b544c6bd42b31200f51700 schema:name doi
    112 schema:value 10.1038/s41588-018-0259-9
    113 rdf:type schema:PropertyValue
    114 N8903e7c8d4e84e9b8f5992e71018c47a rdf:first sg:person.01366065163.97
    115 rdf:rest Nb92d01557fc1441fa0ffad30063e2569
    116 N899d3b24374e43b28ac7c7d037003d7b rdf:first sg:person.0726475763.17
    117 rdf:rest N94f9f3d276fc41cd94631642d472aa4f
    118 N89f8f75d51514e5d9a194dfbc5f4a5fc schema:affiliation N8e66f252c7ab4753b1246855ca714821
    119 schema:familyName Magnusson
    120 schema:givenName Olafur Th.
    121 rdf:type schema:Person
    122 N8d2a53275274461eae4c7f739d3c1ac7 rdf:first sg:person.01220643160.06
    123 rdf:rest N56cc0b1f4ca44960af142e1f6ded2fd8
    124 N8e66f252c7ab4753b1246855ca714821 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    125 rdf:type schema:Organization
    126 N94ddb4ace3574703be1e880cdb87dba6 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    127 rdf:type schema:Organization
    128 N94f9f3d276fc41cd94631642d472aa4f rdf:first sg:person.0612752747.94
    129 rdf:rest Ne3cf9068ddf441ca81c02bd2460081ef
    130 N9d2108dd6abd4a3581d8334d81444a4f schema:name readcube_id
    131 schema:value 737d6b17ea3168f5a9588e7e9924bd201fdea7f134090d663194484b54e45e1b
    132 rdf:type schema:PropertyValue
    133 Na49088a071cb4999a8293feac7a2fb28 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    134 rdf:type schema:Organization
    135 Nac014e5d5cb94282bc974d6fed6a5929 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    136 rdf:type schema:Organization
    137 Nb92d01557fc1441fa0ffad30063e2569 rdf:first sg:person.010001043302.06
    138 rdf:rest N554932fa0f0d4791a88b6ce0c304b2d2
    139 Nba27ddae7d4445e5b7b79eb9ab13a596 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    140 rdf:type schema:Organization
    141 Nca29e7ee15b3410194a5452ec9099a9e rdf:first sg:person.01045441067.97
    142 rdf:rest N8d2a53275274461eae4c7f739d3c1ac7
    143 Nd24e62332b5c4f38b691c9d2c4532d4d schema:name nlm_unique_id
    144 schema:value 9216904
    145 rdf:type schema:PropertyValue
    146 Ndbd2f25bff5a4386b3862018cb3cb96d rdf:first sg:person.01061240155.82
    147 rdf:rest N303c5db96d674975b4ac64ea4d965d37
    148 Ne1d2ed2c54cf42888fcbd03ad79eae7e rdf:first sg:person.016012657463.05
    149 rdf:rest Nca29e7ee15b3410194a5452ec9099a9e
    150 Ne3cf9068ddf441ca81c02bd2460081ef rdf:first N89f8f75d51514e5d9a194dfbc5f4a5fc
    151 rdf:rest Ne6a877902ade496bbeddcfdd954620e7
    152 Ne66c0360b0b54f09a9731de75cf49b8b schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    153 rdf:type schema:Organization
    154 Ne6a877902ade496bbeddcfdd954620e7 rdf:first sg:person.01277776417.51
    155 rdf:rest N8903e7c8d4e84e9b8f5992e71018c47a
    156 Nec0b9dfc4e82476aafa2ab62025439f5 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    157 rdf:type schema:Organization
    158 Nf0d127c1300448409abdf889a21aa9da schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    159 rdf:type schema:Organization
    160 Nf67638c8c0a449bdb376f121455bbc85 rdf:first sg:person.0723426172.10
    161 rdf:rest rdf:nil
    162 Nfd874026b5cb4486be3b43cb0f0f13b5 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    163 rdf:type schema:Organization
    164 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    165 schema:name Medical and Health Sciences
    166 rdf:type schema:DefinedTerm
    167 anzsrc-for:1114 schema:inDefinedTermSet anzsrc-for:
    168 schema:name Paediatrics and Reproductive Medicine
    169 rdf:type schema:DefinedTerm
    170 sg:journal.1103138 schema:issn 1061-4036
    171 1546-1718
    172 schema:name Nature Genetics
    173 rdf:type schema:Periodical
    174 sg:person.010001043302.06 schema:affiliation https://www.grid.ac/institutes/grid.14013.37
    175 schema:familyName Kong
    176 schema:givenName Augustine
    177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010001043302.06
    178 rdf:type schema:Person
    179 sg:person.01023673114.90 schema:affiliation Nec0b9dfc4e82476aafa2ab62025439f5
    180 schema:familyName Jonasdottir
    181 schema:givenName Adalbjorg
    182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023673114.90
    183 rdf:type schema:Person
    184 sg:person.01025022663.19 schema:affiliation N7cf2ddd3c4204b2a9e2c1075757ae56a
    185 schema:familyName Gudjonsson
    186 schema:givenName Sigurjon Axel
    187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025022663.19
    188 rdf:type schema:Person
    189 sg:person.01045441067.97 schema:affiliation N64e36d596daa4e49bbeb59e1131a09e3
    190 schema:familyName Jensson
    191 schema:givenName Brynjar Ö.
    192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045441067.97
    193 rdf:type schema:Person
    194 sg:person.01061240155.82 schema:affiliation N6f6286c89599448e956f1c81961e39cc
    195 schema:familyName Gylfason
    196 schema:givenName Arnaldur
    197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01061240155.82
    198 rdf:type schema:Person
    199 sg:person.01071376774.64 schema:affiliation https://www.grid.ac/institutes/grid.14013.37
    200 schema:familyName Helgason
    201 schema:givenName Agnar
    202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071376774.64
    203 rdf:type schema:Person
    204 sg:person.01121255525.11 schema:affiliation Nac014e5d5cb94282bc974d6fed6a5929
    205 schema:familyName Zink
    206 schema:givenName Florian
    207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121255525.11
    208 rdf:type schema:Person
    209 sg:person.01164462133.08 schema:affiliation https://www.grid.ac/institutes/grid.410540.4
    210 schema:familyName Marelsson
    211 schema:givenName Sigurdur Einar
    212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164462133.08
    213 rdf:type schema:Person
    214 sg:person.012141210347.48 schema:affiliation N12168781d742402bb1f514a71c8fe3bc
    215 schema:familyName Kristmundsdottir
    216 schema:givenName Snaedis
    217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012141210347.48
    218 rdf:type schema:Person
    219 sg:person.01220643160.06 schema:affiliation Nfd874026b5cb4486be3b43cb0f0f13b5
    220 schema:familyName Jonsdottir
    221 schema:givenName Ingileif
    222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220643160.06
    223 rdf:type schema:Person
    224 sg:person.012576612316.51 schema:affiliation N94ddb4ace3574703be1e880cdb87dba6
    225 schema:familyName Pálsson
    226 schema:givenName Gunnar
    227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012576612316.51
    228 rdf:type schema:Person
    229 sg:person.01265161315.61 schema:affiliation https://www.grid.ac/institutes/grid.9580.4
    230 schema:familyName Halldorsson
    231 schema:givenName Bjarni V.
    232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265161315.61
    233 rdf:type schema:Person
    234 sg:person.01276523755.34 schema:affiliation N51ceecb0d125478db04be5ffc5fb28e1
    235 schema:familyName Kehr
    236 schema:givenName Birte
    237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276523755.34
    238 rdf:type schema:Person
    239 sg:person.01277776417.51 schema:affiliation https://www.grid.ac/institutes/grid.14013.37
    240 schema:familyName Thorsteinsdottir
    241 schema:givenName Unnur
    242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277776417.51
    243 rdf:type schema:Person
    244 sg:person.01366065163.97 schema:affiliation N1461bbfcd3e34bf8aa2fe5aa83bb53b2
    245 schema:familyName Masson
    246 schema:givenName Gisli
    247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366065163.97
    248 rdf:type schema:Person
    249 sg:person.014263416547.25 schema:affiliation N7a4715cead1744e08a7a6cf5dc04fecc
    250 schema:familyName Jónsson
    251 schema:givenName Hákon
    252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014263416547.25
    253 rdf:type schema:Person
    254 sg:person.016012657463.05 schema:affiliation N3000f469feb744fe80aa192126d9f65a
    255 schema:familyName Hjorleifsson
    256 schema:givenName Kristjan E.
    257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016012657463.05
    258 rdf:type schema:Person
    259 sg:person.0612752747.94 schema:affiliation Ne66c0360b0b54f09a9731de75cf49b8b
    260 schema:familyName Stacey
    261 schema:givenName Simon N.
    262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612752747.94
    263 rdf:type schema:Person
    264 sg:person.0637651205.48 schema:affiliation https://www.grid.ac/institutes/grid.14013.37
    265 schema:familyName Gudbjartsson
    266 schema:givenName Daniel F.
    267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637651205.48
    268 rdf:type schema:Person
    269 sg:person.0723426172.10 schema:affiliation https://www.grid.ac/institutes/grid.14013.37
    270 schema:familyName Stefansson
    271 schema:givenName Kari
    272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723426172.10
    273 rdf:type schema:Person
    274 sg:person.0726475763.17 schema:affiliation Na49088a071cb4999a8293feac7a2fb28
    275 schema:familyName Jonasdottir
    276 schema:givenName Aslaug
    277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726475763.17
    278 rdf:type schema:Person
    279 sg:person.07721544433.41 schema:affiliation Nf0d127c1300448409abdf889a21aa9da
    280 schema:familyName Eggertsson
    281 schema:givenName Hannes P.
    282 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07721544433.41
    283 rdf:type schema:Person
    284 sg:person.0773127601.34 schema:affiliation Nba27ddae7d4445e5b7b79eb9ab13a596
    285 schema:familyName Sulem
    286 schema:givenName Patrick
    287 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773127601.34
    288 rdf:type schema:Person
    289 sg:person.0777325667.55 schema:affiliation N49aa48e31e8940b78899818c6126651c
    290 schema:familyName Arnadottir
    291 schema:givenName Gudny A.
    292 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777325667.55
    293 rdf:type schema:Person
    294 sg:pub.10.1023/a:1008800423698 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002000075
    295 https://doi.org/10.1023/a:1008800423698
    296 rdf:type schema:CreativeWork
    297 sg:pub.10.1038/nature10842 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019463387
    298 https://doi.org/10.1038/nature10842
    299 rdf:type schema:CreativeWork
    300 sg:pub.10.1038/nature11396 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029300076
    301 https://doi.org/10.1038/nature11396
    302 rdf:type schema:CreativeWork
    303 sg:pub.10.1038/nature12439 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003744287
    304 https://doi.org/10.1038/nature12439
    305 rdf:type schema:CreativeWork
    306 sg:pub.10.1038/nature21703 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084128594
    307 https://doi.org/10.1038/nature21703
    308 rdf:type schema:CreativeWork
    309 sg:pub.10.1038/nature24018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091858020
    310 https://doi.org/10.1038/nature24018
    311 rdf:type schema:CreativeWork
    312 sg:pub.10.1038/ncomms10486 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021691588
    313 https://doi.org/10.1038/ncomms10486
    314 rdf:type schema:CreativeWork
    315 sg:pub.10.1038/ng.150 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007370144
    316 https://doi.org/10.1038/ng.150
    317 rdf:type schema:CreativeWork
    318 sg:pub.10.1038/ng.3469 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023856595
    319 https://doi.org/10.1038/ng.3469
    320 rdf:type schema:CreativeWork
    321 sg:pub.10.1038/ng.3964 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091911912
    322 https://doi.org/10.1038/ng.3964
    323 rdf:type schema:CreativeWork
    324 sg:pub.10.1038/nrg.2016.159 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074201809
    325 https://doi.org/10.1038/nrg.2016.159
    326 rdf:type schema:CreativeWork
    327 sg:pub.10.1038/nrg.2016.88 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039236267
    328 https://doi.org/10.1038/nrg.2016.88
    329 rdf:type schema:CreativeWork
    330 sg:pub.10.1038/nrg3424 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040973363
    331 https://doi.org/10.1038/nrg3424
    332 rdf:type schema:CreativeWork
    333 sg:pub.10.1038/sdata.2017.115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091875894
    334 https://doi.org/10.1038/sdata.2017.115
    335 rdf:type schema:CreativeWork
    336 sg:pub.10.1097/gim.0b013e318202e0f6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008135924
    337 https://doi.org/10.1097/gim.0b013e318202e0f6
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1016/j.ajhg.2014.07.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025227868
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1016/j.ajhg.2014.08.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001200342
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1016/j.ajhg.2015.05.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006032430
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1073/pnas.1521325113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036047215
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1086/302322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609900
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1086/302412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609987
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1093/bioinformatics/btp352 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023014918
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1093/bioinformatics/btu033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000848409
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1098/rstb.2015.0137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048149856
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1111/j.1399-0004.2005.00397.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1003066037
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1111/j.1399-0004.2009.01173.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1008289390
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1126/science.aab1785 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017106459
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1136/jmg.26.9.553 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012294360
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.3390/genes6020216 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043657568
    368 rdf:type schema:CreativeWork
    369 https://www.grid.ac/institutes/grid.14013.37 schema:alternateName University of Iceland
    370 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    371 Department of Anthropology, University of Iceland, Reykjavik, Iceland
    372 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
    373 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
    374 rdf:type schema:Organization
    375 https://www.grid.ac/institutes/grid.410540.4 schema:alternateName National University Hospital of Iceland
    376 schema:name Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland
    377 rdf:type schema:Organization
    378 https://www.grid.ac/institutes/grid.9580.4 schema:alternateName Reykjavík University
    379 schema:name CODE genetics/Amgen Inc., Reykjavik, Iceland
    380 School of Science and Engineering, Reykjavik University, Reykjavík, Iceland
    381 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...