Peter D Stenson

Ontology type: schema:Person     

Person Info


Peter D



Publications in SciGraph latest 50 shown

  • 2017-12 iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations in GENOME BIOLOGY
  • 2017-06 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies in HUMAN GENETICS
  • 2016-12 M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity in NATURE GENETICS
  • 2016-08 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-02 The mutation significance cutoff: gene-level thresholds for variant predictions in NATURE METHODS
  • 2015-12 Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach in HUMAN GENOMICS
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-01 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine in HUMAN GENETICS
  • 2013-11 MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures in HUMAN GENETICS
  • 2013-05 Identifying Mendelian disease genes with the Variant Effect Scoring Tool in BMC GENOMICS
  • 2012-03 Insights into hominid evolution from the gorilla genome sequence in NATURE
  • 2011-11 Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques in NATURE BIOTECHNOLOGY
  • 2011-07 Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders in HUMAN GENETICS
  • 2010-12 Prospects for the automated extraction of mutation data from the scientific literature in HUMAN GENOMICS
  • 2010-12 Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides in HUMAN GENOMICS
  • 2010 Databases in Human and Medical Genetics in VOGEL AND MOTULSKY'S HUMAN GENETICS
  • 2009-12 The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics in HUMAN GENOMICS
  • 2009-01 The Human Gene Mutation Database: 2008 update in GENOME MEDICINE
  • 2005-09 A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease in HUMAN GENETICS
  • 2004-06 Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes in GENOME BIOLOGY
  • 2002 HGMD: The Human Gene Mutation Database in BIOINFORMATICS: DATABASES AND SYSTEMS
  • 2000-10 Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions in HUMAN GENETICS
  • 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": "", 
        "affiliation": [
            "affiliation": {
              "id": "", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "", 
            "type": "Organization"
        "familyName": "Stenson", 
        "givenName": "Peter D", 
        "id": "sg:person.01174747522.13", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T15:14", 
        "sdLicense": "", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_918.json", 
        "type": "Person"

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


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

    curl -H 'Accept: application/ld+json' ''

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

    curl -H 'Accept: application/n-triples' ''

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' ''

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

    curl -H 'Accept: application/rdf+xml' ''


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