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Author: Daniel G. MacArthur

Rankings

  • All-time downloads: 46,974 (rank: 820 out of 404,161)
  • Categories:
    • bioinformatics: 5,549 (rank: 1,641 out of 34,272)
    • genetics: 19,810 (rank: 413 out of 36,792)
    • genomics: 21,615 (rank: 419 out of 42,763)

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Preprints

New mutations, old statistical challenges

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

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    • Site-wide: 431 out of 94,912
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    • Site-wide: 654 out of 94,912

Regional missense constraint improves variant deleteriousness prediction

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    • In genomics: 96 out of 5,955
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    • Site-wide: 1,691 out of 94,912

Using high-resolution variant frequencies to empower clinical genome interpretation

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Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
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    • In genetics: 114 out of 4,824
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Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

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    • In genomics: 366 out of 5,955
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New synthetic-diploid benchmark for accurate variant calling evaluation

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STRetch: detecting and discovering pathogenic short tandem repeats expansions

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    • Site-wide: 19,019 out of 94,912

Landscape of X chromosome inactivation across human tissues

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    • In genomics: 699 out of 5,955
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    • Site-wide: 42,546 out of 94,912

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

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    • In genetics: 458 out of 4,824
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    • Site-wide: 78,922 out of 94,912
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    • Site-wide: 64,824 out of 94,912

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

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    • In genomics: 1,015 out of 5,955
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    • Site-wide: 35,957 out of 94,912

Determining the impact of putative loss-of-function variants in protein-coding genes

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    • In genomics: 1,217 out of 5,955
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
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    • In genetics: 685 out of 4,824
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    • Site-wide: 25,505 out of 94,912

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
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    • Site-wide: 11,615 out of 94,912
    • In genomics: 1,613 out of 5,955
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    • Site-wide: 89,847 out of 94,912
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    • Site-wide: 84,713 out of 94,912

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

genomics more details view paper
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    • Site-wide: 14,613 out of 94,912
    • In genomics: 1,905 out of 5,955
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    • Site-wide: 31,585 out of 94,912
  • Since beginning of last month:
    • Site-wide: 55,776 out of 94,912

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

genomics more details view paper
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    • Site-wide: 66,773 out of 94,912
    • In genomics: 4,951 out of 5,955
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