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Author: Laura D Gauthier

  • Most recently observed institution: Data Sciences Platform, Broad Institute

Rankings

  • All-time downloads: 54,922 (rank: 3,816 )
  • Categories:
    • genetic and genomic medicine: 4,341 (rank: 963 (tie) )
    • genomics: 50,581 (rank: 227 )

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
  • Since beginning of last month:
    • Site-wide: 5,084

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,374 times
  • Download rankings, all-time:
    • Site-wide: 982
    • In genomics: 61
  • Year to date:
    • Site-wide: 6,276
  • Since beginning of last month:
    • Site-wide: 15,158

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 9,949 times
  • Download rankings, all-time:
    • Site-wide: 1,153
    • In genomics: 75
  • Year to date:
    • Site-wide: 1,852
  • Since beginning of last month:
    • Site-wide: 2,018

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 4,341 times
  • Download rankings, all-time:
    • Site-wide: 3,418
    • In genetic and genomic medicine: 15
  • Year to date:
    • Site-wide: 1,942
  • Since beginning of last month:
    • Site-wide: 2,962

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

genomics more details view paper
  • Downloaded 1,637 times
  • Download rankings, all-time:
    • Site-wide: 13,969
    • In genomics: 1,350
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 148,365

Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-Δ32 and other variants in gnomAD

genomics more details view paper
  • Downloaded 1,152 times
  • Download rankings, all-time:
    • Site-wide: 23,922
    • In genomics: 2,163
  • Year to date:
    • Site-wide: 38,876
  • Since beginning of last month:
    • Site-wide: 39,493

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

genomics more details view paper
  • Downloaded 1,093 times
  • Download rankings, all-time:
    • Site-wide: 25,919
    • In genomics: 2,316
  • Year to date:
    • Site-wide: 100,638
  • Since beginning of last month:
    • Site-wide: 19,820

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