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Author: Alan R. Shuldiner

Rankings

  • All-time downloads: 15,542 (rank: 3,784 out of 364,124)
  • Categories:
    • genetics: 1,730 (rank: 8,181 (tie) out of 34,066)
    • genomics: 13,812 (rank: 819 out of 39,234)

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

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

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

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

genetics more details view paper
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Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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    • Site-wide: 38,007 out of 84,617

Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US

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    • In genetics: 3,791 out of 4,443
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    • Site-wide: 54,031 out of 84,617

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