Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-12

AUTHORS

Lauren Grote, Melanie Myers, Anne Lovell, Howard Saal, Kristen Lipscomb Sund

ABSTRACT

PURPOSE: Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories in the United States regarding ROH found on SNP microarray tests, to discuss the follow-up practices of laboratory personnel when findings of ROH indicate consanguinity or incest, and to highlight the legal and ethical dilemmas faced by workers who have discovered these incidental findings. METHODS: A 20-question survey was administered to microarray experts at 18 laboratories offering clinical SNP microarray tests. The results are presented using descriptive statistics. RESULTS: There was variability in laboratory SNP microarray reporting practices with respect to information and interpretation of ROH findings. All the laboratories agreed that they have a duty to inform the ordering physician about results suggesting consanguinity or incest, but the follow-through practices varied among laboratories. CONCLUSIONS: This study discovered variability in reporting practices and follow-up procedures for microarray results that suggest parental consanguinity or incest. Our findings highlight the need for laboratory guidelines to standardize reporting practices for SNP microarray and other tests that are capable of detecting ROH. More... »

PAGES

971

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.83

DOI

http://dx.doi.org/10.1038/gim.2012.83

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021612587

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22791212


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/2008/1117", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Public Health and Health Services", 
        "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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Consanguinity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Disclosure", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Incest", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Laboratory Personnel", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Observer Variation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oligonucleotide Array Sequence Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Surveys and Questionnaires", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "United States", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Cincinnati", 
          "id": "https://www.grid.ac/institutes/grid.24827.3b", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics at Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA", 
            "Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grote", 
        "givenName": "Lauren", 
        "id": "sg:person.0653662654.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653662654.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cincinnati", 
          "id": "https://www.grid.ac/institutes/grid.24827.3b", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics at Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA", 
            "Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Myers", 
        "givenName": "Melanie", 
        "id": "sg:person.0735013566.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735013566.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cincinnati", 
          "id": "https://www.grid.ac/institutes/grid.24827.3b", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics at Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA", 
            "Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lovell", 
        "givenName": "Anne", 
        "id": "sg:person.01071176411.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071176411.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cincinnati", 
          "id": "https://www.grid.ac/institutes/grid.24827.3b", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics at Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA", 
            "Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saal", 
        "givenName": "Howard", 
        "id": "sg:person.0624302643.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624302643.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cincinnati", 
          "id": "https://www.grid.ac/institutes/grid.24827.3b", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics at Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA", 
            "Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sund", 
        "givenName": "Kristen Lipscomb", 
        "id": "sg:person.01053111034.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053111034.58"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ajmg.a.33939", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005253493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1014593404915", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012178421", 
          "https://doi.org/10.1023/a:1014593404915"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2008.08.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016924755"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2010.04.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027541669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2008.062604", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028621185"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2788.1990.tb01560.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028913884"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e318217477f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028915726", 
          "https://doi.org/10.1097/gim.0b013e318217477f"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e318217477f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028915726", 
          "https://doi.org/10.1097/gim.0b013e318217477f"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0040-5809(77)90007-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031633711"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0906079106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032808292"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddq003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033701684"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12687-011-0072-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034042345", 
          "https://doi.org/10.1007/s12687-011-0072-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cll.2011.08.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036289975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0013996", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039955304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpeds.2009.04.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045773134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181c0c3b0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047694908", 
          "https://doi.org/10.1097/gim.0b013e3181c0c3b0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181c0c3b0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047694908", 
          "https://doi.org/10.1097/gim.0b013e3181c0c3b0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f8baad", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048163304", 
          "https://doi.org/10.1097/gim.0b013e3181f8baad"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f8baad", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048163304", 
          "https://doi.org/10.1097/gim.0b013e3181f8baad"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.0060320", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049144287"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(11)60201-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051487718"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2012-12", 
    "datePublishedReg": "2012-12-01", 
    "description": "PURPOSE: Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories in the United States regarding ROH found on SNP microarray tests, to discuss the follow-up practices of laboratory personnel when findings of ROH indicate consanguinity or incest, and to highlight the legal and ethical dilemmas faced by workers who have discovered these incidental findings.\nMETHODS: A 20-question survey was administered to microarray experts at 18 laboratories offering clinical SNP microarray tests. The results are presented using descriptive statistics.\nRESULTS: There was variability in laboratory SNP microarray reporting practices with respect to information and interpretation of ROH findings. All the laboratories agreed that they have a duty to inform the ordering physician about results suggesting consanguinity or incest, but the follow-through practices varied among laboratories.\nCONCLUSIONS: This study discovered variability in reporting practices and follow-up procedures for microarray results that suggest parental consanguinity or incest. Our findings highlight the need for laboratory guidelines to standardize reporting practices for SNP microarray and other tests that are capable of detecting ROH.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/gim.2012.83", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "14"
      }
    ], 
    "name": "Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing", 
    "pagination": "971", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "66f910c922e4cc43457a4f14369e010559a994fbaae1581f2867058f61b78329"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "22791212"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/gim.2012.83"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1021612587"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/gim.2012.83", 
      "https://app.dimensions.ai/details/publication/pub.1021612587"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T15:39", 
    "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_8664_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/gim201283"
  }
]
 

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/gim.2012.83'

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/gim.2012.83'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.83'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.83'


 

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

209 TRIPLES      21 PREDICATES      60 URIs      33 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/gim.2012.83 schema:about N0b238cb7b10341de97b3cd27754c515d
2 N11bfb5a171ba4378941aad68b21d19c6
3 N28ed67b03e3e47fea0092d723b045949
4 N2ae6a46f103f4d42bf2032469c2309b7
5 N367b47690f3e4de0992c4aa959d96591
6 N4b2e785f65fc4d12a53457754cdf87d1
7 N6515dc1241a649f2acaf3cba5ca200ff
8 N86e2534484674615af0fbc616b1a1567
9 Na789a715fac748a29e1a2904e9c32557
10 Nbb5c8e9f672849c49d5ab427156621d2
11 Nc2c38843412f4929ae043f11104d799a
12 Ncfb6007cc0ca4be79de3bbf507c87f3b
13 anzsrc-for:11
14 anzsrc-for:1117
15 schema:author Nb61fd10e45584c3ca6b4f6434e3b9118
16 schema:citation sg:pub.10.1007/s12687-011-0072-y
17 sg:pub.10.1023/a:1014593404915
18 sg:pub.10.1097/gim.0b013e3181c0c3b0
19 sg:pub.10.1097/gim.0b013e3181f8baad
20 sg:pub.10.1097/gim.0b013e3181fbfcc4
21 sg:pub.10.1097/gim.0b013e318217477f
22 https://doi.org/10.1002/ajmg.a.33939
23 https://doi.org/10.1016/0040-5809(77)90007-7
24 https://doi.org/10.1016/j.ajhg.2008.08.007
25 https://doi.org/10.1016/j.ajhg.2010.04.006
26 https://doi.org/10.1016/j.cll.2011.08.003
27 https://doi.org/10.1016/j.jpeds.2009.04.001
28 https://doi.org/10.1016/s0140-6736(11)60201-8
29 https://doi.org/10.1073/pnas.0906079106
30 https://doi.org/10.1093/hmg/ddq003
31 https://doi.org/10.1111/j.1365-2788.1990.tb01560.x
32 https://doi.org/10.1136/jmg.2008.062604
33 https://doi.org/10.1371/journal.pbio.0060320
34 https://doi.org/10.1371/journal.pone.0013996
35 schema:datePublished 2012-12
36 schema:datePublishedReg 2012-12-01
37 schema:description PURPOSE: Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories in the United States regarding ROH found on SNP microarray tests, to discuss the follow-up practices of laboratory personnel when findings of ROH indicate consanguinity or incest, and to highlight the legal and ethical dilemmas faced by workers who have discovered these incidental findings. METHODS: A 20-question survey was administered to microarray experts at 18 laboratories offering clinical SNP microarray tests. The results are presented using descriptive statistics. RESULTS: There was variability in laboratory SNP microarray reporting practices with respect to information and interpretation of ROH findings. All the laboratories agreed that they have a duty to inform the ordering physician about results suggesting consanguinity or incest, but the follow-through practices varied among laboratories. CONCLUSIONS: This study discovered variability in reporting practices and follow-up procedures for microarray results that suggest parental consanguinity or incest. Our findings highlight the need for laboratory guidelines to standardize reporting practices for SNP microarray and other tests that are capable of detecting ROH.
38 schema:genre research_article
39 schema:inLanguage en
40 schema:isAccessibleForFree true
41 schema:isPartOf Nf764df3631f04113be37cf1c8d0b78dd
42 Nf7e8b2131d6c43ad82c021539d52832a
43 sg:journal.1119411
44 schema:name Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing
45 schema:pagination 971
46 schema:productId N0ed77319760344a49958e68b41351e8f
47 N271b029d36504ce39c5ed3970b62353c
48 N579f28b8020f4cd39e9abb45e3369e0f
49 N67a765222a354fa087a48975697cfdeb
50 N8d0b7ee7931a4ad49854fab9e1235c64
51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021612587
52 https://doi.org/10.1038/gim.2012.83
53 schema:sdDatePublished 2019-04-10T15:39
54 schema:sdLicense https://scigraph.springernature.com/explorer/license/
55 schema:sdPublisher Nce77669214e14150ad3cb97f4891b68d
56 schema:url https://www.nature.com/articles/gim201283
57 sgo:license sg:explorer/license/
58 sgo:sdDataset articles
59 rdf:type schema:ScholarlyArticle
60 N0b238cb7b10341de97b3cd27754c515d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
61 schema:name Homozygote
62 rdf:type schema:DefinedTerm
63 N0ed77319760344a49958e68b41351e8f schema:name dimensions_id
64 schema:value pub.1021612587
65 rdf:type schema:PropertyValue
66 N11bfb5a171ba4378941aad68b21d19c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Oligonucleotide Array Sequence Analysis
68 rdf:type schema:DefinedTerm
69 N271b029d36504ce39c5ed3970b62353c schema:name doi
70 schema:value 10.1038/gim.2012.83
71 rdf:type schema:PropertyValue
72 N28ed67b03e3e47fea0092d723b045949 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Genetic Testing
74 rdf:type schema:DefinedTerm
75 N2ae6a46f103f4d42bf2032469c2309b7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Observer Variation
77 rdf:type schema:DefinedTerm
78 N367b47690f3e4de0992c4aa959d96591 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Incest
80 rdf:type schema:DefinedTerm
81 N3b25ed5635074ab59d019bcb752d01f2 rdf:first sg:person.01053111034.58
82 rdf:rest rdf:nil
83 N4b2e785f65fc4d12a53457754cdf87d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Humans
85 rdf:type schema:DefinedTerm
86 N579f28b8020f4cd39e9abb45e3369e0f schema:name readcube_id
87 schema:value 66f910c922e4cc43457a4f14369e010559a994fbaae1581f2867058f61b78329
88 rdf:type schema:PropertyValue
89 N6515dc1241a649f2acaf3cba5ca200ff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Surveys and Questionnaires
91 rdf:type schema:DefinedTerm
92 N67a765222a354fa087a48975697cfdeb schema:name nlm_unique_id
93 schema:value 9815831
94 rdf:type schema:PropertyValue
95 N86e2534484674615af0fbc616b1a1567 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name United States
97 rdf:type schema:DefinedTerm
98 N8d0b7ee7931a4ad49854fab9e1235c64 schema:name pubmed_id
99 schema:value 22791212
100 rdf:type schema:PropertyValue
101 Na789a715fac748a29e1a2904e9c32557 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Laboratory Personnel
103 rdf:type schema:DefinedTerm
104 Nb261f1a0cc6349f5ab9ebe9af7e1a812 rdf:first sg:person.0624302643.74
105 rdf:rest N3b25ed5635074ab59d019bcb752d01f2
106 Nb61fd10e45584c3ca6b4f6434e3b9118 rdf:first sg:person.0653662654.69
107 rdf:rest Nf3a4f27fd9bb4075adb87de0a83f7b98
108 Nb8c9c561432644d28e67bf70b8f38a72 rdf:first sg:person.01071176411.67
109 rdf:rest Nb261f1a0cc6349f5ab9ebe9af7e1a812
110 Nbb5c8e9f672849c49d5ab427156621d2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Disclosure
112 rdf:type schema:DefinedTerm
113 Nc2c38843412f4929ae043f11104d799a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Consanguinity
115 rdf:type schema:DefinedTerm
116 Nce77669214e14150ad3cb97f4891b68d schema:name Springer Nature - SN SciGraph project
117 rdf:type schema:Organization
118 Ncfb6007cc0ca4be79de3bbf507c87f3b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Polymorphism, Single Nucleotide
120 rdf:type schema:DefinedTerm
121 Nf3a4f27fd9bb4075adb87de0a83f7b98 rdf:first sg:person.0735013566.83
122 rdf:rest Nb8c9c561432644d28e67bf70b8f38a72
123 Nf764df3631f04113be37cf1c8d0b78dd schema:volumeNumber 14
124 rdf:type schema:PublicationVolume
125 Nf7e8b2131d6c43ad82c021539d52832a schema:issueNumber 12
126 rdf:type schema:PublicationIssue
127 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
128 schema:name Medical and Health Sciences
129 rdf:type schema:DefinedTerm
130 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
131 schema:name Public Health and Health Services
132 rdf:type schema:DefinedTerm
133 sg:journal.1119411 schema:issn 1098-3600
134 1530-0366
135 schema:name Genetics in Medicine
136 rdf:type schema:Periodical
137 sg:person.01053111034.58 schema:affiliation https://www.grid.ac/institutes/grid.24827.3b
138 schema:familyName Sund
139 schema:givenName Kristen Lipscomb
140 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053111034.58
141 rdf:type schema:Person
142 sg:person.01071176411.67 schema:affiliation https://www.grid.ac/institutes/grid.24827.3b
143 schema:familyName Lovell
144 schema:givenName Anne
145 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071176411.67
146 rdf:type schema:Person
147 sg:person.0624302643.74 schema:affiliation https://www.grid.ac/institutes/grid.24827.3b
148 schema:familyName Saal
149 schema:givenName Howard
150 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624302643.74
151 rdf:type schema:Person
152 sg:person.0653662654.69 schema:affiliation https://www.grid.ac/institutes/grid.24827.3b
153 schema:familyName Grote
154 schema:givenName Lauren
155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653662654.69
156 rdf:type schema:Person
157 sg:person.0735013566.83 schema:affiliation https://www.grid.ac/institutes/grid.24827.3b
158 schema:familyName Myers
159 schema:givenName Melanie
160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735013566.83
161 rdf:type schema:Person
162 sg:pub.10.1007/s12687-011-0072-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1034042345
163 https://doi.org/10.1007/s12687-011-0072-y
164 rdf:type schema:CreativeWork
165 sg:pub.10.1023/a:1014593404915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012178421
166 https://doi.org/10.1023/a:1014593404915
167 rdf:type schema:CreativeWork
168 sg:pub.10.1097/gim.0b013e3181c0c3b0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047694908
169 https://doi.org/10.1097/gim.0b013e3181c0c3b0
170 rdf:type schema:CreativeWork
171 sg:pub.10.1097/gim.0b013e3181f8baad schema:sameAs https://app.dimensions.ai/details/publication/pub.1048163304
172 https://doi.org/10.1097/gim.0b013e3181f8baad
173 rdf:type schema:CreativeWork
174 sg:pub.10.1097/gim.0b013e3181fbfcc4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041190626
175 https://doi.org/10.1097/gim.0b013e3181fbfcc4
176 rdf:type schema:CreativeWork
177 sg:pub.10.1097/gim.0b013e318217477f schema:sameAs https://app.dimensions.ai/details/publication/pub.1028915726
178 https://doi.org/10.1097/gim.0b013e318217477f
179 rdf:type schema:CreativeWork
180 https://doi.org/10.1002/ajmg.a.33939 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005253493
181 rdf:type schema:CreativeWork
182 https://doi.org/10.1016/0040-5809(77)90007-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031633711
183 rdf:type schema:CreativeWork
184 https://doi.org/10.1016/j.ajhg.2008.08.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016924755
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1016/j.ajhg.2010.04.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027541669
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1016/j.cll.2011.08.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036289975
189 rdf:type schema:CreativeWork
190 https://doi.org/10.1016/j.jpeds.2009.04.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045773134
191 rdf:type schema:CreativeWork
192 https://doi.org/10.1016/s0140-6736(11)60201-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051487718
193 rdf:type schema:CreativeWork
194 https://doi.org/10.1073/pnas.0906079106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032808292
195 rdf:type schema:CreativeWork
196 https://doi.org/10.1093/hmg/ddq003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033701684
197 rdf:type schema:CreativeWork
198 https://doi.org/10.1111/j.1365-2788.1990.tb01560.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1028913884
199 rdf:type schema:CreativeWork
200 https://doi.org/10.1136/jmg.2008.062604 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028621185
201 rdf:type schema:CreativeWork
202 https://doi.org/10.1371/journal.pbio.0060320 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049144287
203 rdf:type schema:CreativeWork
204 https://doi.org/10.1371/journal.pone.0013996 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039955304
205 rdf:type schema:CreativeWork
206 https://www.grid.ac/institutes/grid.24827.3b schema:alternateName University of Cincinnati
207 schema:name Department of Pediatrics, The University of Cincinnati, Cincinnati, Ohio, USA
208 Division of Human Genetics, Department of Pediatrics at Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
209 rdf:type schema:Organization
 




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


...