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Author: Shane E McCarthy

  • Most recently observed institution: Regeneron Genetics Center

Rankings

  • All-time downloads: 6,342 (rank: 34,359 (tie) )
  • Categories:
    • bioinformatics: 1,695 (rank: 9,089 (tie) )
    • genetic and genomic medicine: 1,534 (rank: 1,819 (tie) )
    • genetics: 619 (rank: 22,852 (tie) )
    • genomics: 2,494 (rank: 9,948 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 1,584 times
  • Download rankings, all-time:
    • Site-wide: 11,536
    • In genomics: 1,219
  • Year to date:
    • Site-wide: 76,349
  • Since beginning of last month:
    • Site-wide: 66,333

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

genetic and genomic medicine more details view paper
  • Downloaded 1,534 times
  • Download rankings, all-time:
    • Site-wide: 12,063
    • In genetic and genomic medicine: 46
  • Year to date:
    • Site-wide: 2,480
  • Since beginning of last month:
    • Site-wide: 8,229

KaryoScan: abnormal karyotype detection from whole-exome sequence

bioinformatics more details view paper
  • Downloaded 1,317 times
  • Download rankings, all-time:
    • Site-wide: 15,183
    • In bioinformatics: 1,796
  • Year to date:
    • Site-wide: 40,557
  • Since beginning of last month:
    • Site-wide: 94,198

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

genomics more details view paper
  • Downloaded 910 times
  • Download rankings, all-time:
    • Site-wide: 26,193
    • In genomics: 2,430
  • Year to date:
    • Site-wide: 86,685
  • Since beginning of last month:
    • Site-wide: 66,391

Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia

genetics more details view paper
  • Downloaded 619 times
  • Download rankings, all-time:
    • Site-wide: 44,253
    • In genetics: 2,038
  • Year to date:
    • Site-wide: 17,336
  • Since beginning of last month:
    • Site-wide: 112,037

Detection of rare disease-related genetic variants using the birthday model

bioinformatics more details view paper
  • Downloaded 378 times
  • Download rankings, all-time:
    • Site-wide: 76,102
    • In bioinformatics: 7,058
  • Year to date:
    • Site-wide: 105,041
  • Since beginning of last month:
    • Site-wide: 94,757

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