Author: Jeffrey Staples

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Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

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  • Site-wide: 796
  • In genomics: 34
• Year to date:
  • Site-wide: 8,297
• Since beginning of last month:
  • Site-wide: 6,680

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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  • Site-wide: 14,761
  • In genomics: 1,324
• Year to date:
  • Site-wide: 117,438
• Since beginning of last month:
  • Site-wide: 77,200

KaryoScan: abnormal karyotype detection from whole-exome sequence

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  • Site-wide: 18,626
  • In bioinformatics: 1,959
• Year to date:
  • Site-wide: 105,030
• Since beginning of last month:
  • Site-wide: 105,181

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

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  • Site-wide: 27,173
  • In genetics: 1,066
• Year to date:
  • Site-wide: 154,458
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  • Site-wide: 160,466

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

• Downloaded 979 times
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  • Site-wide: 35,070
  • In genomics: 2,745
• Year to date:
  • Site-wide: 153,720
• Since beginning of last month:
  • Site-wide: 141,042

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

• Downloaded 754 times
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  • Site-wide: 51,498
  • In genetic and genomic medicine: 314
• Year to date:
  • Site-wide: 18,013
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  • Site-wide: 20,396

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

• Downloaded 413 times
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  • Site-wide: 107,035
  • In genetic and genomic medicine: 618
• Year to date:
  • Site-wide: 90,428
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  • Site-wide: 59,414

Genome-wide survey of parent-of-origin specific associations across clinical traits derived from electronic health records

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  • Site-wide: 124,765
  • In genetic and genomic medicine: 717
• Year to date:
  • Site-wide: 161,309
• Since beginning of last month:
  • Site-wide: 168,332

Validating gene-phenotype associations using relationships in the UMLS

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  • Site-wide: 130,602
  • In bioinformatics: 10,369
• Year to date:
  • Site-wide: 95,969
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  • Site-wide: 63,291