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Author: Laura D Gauthier

  • Most recently observed institution: Data Science Platform, Broad Institute of Harvard and M.I.T.

Rankings

  • All-time downloads: 43,267 (rank: 995 out of 427,351)
  • Categories:
    • genomics: 43,267 (rank: 163 out of 44,718)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 23,222 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 101,171
    • In genomics: 9 out of 6,271
  • Year to date:
    • Site-wide: 152 out of 101,171
  • Since beginning of last month:
    • Site-wide: 374 out of 101,171

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 10,579 times
  • Download rankings, all-time:
    • Site-wide: 253 out of 101,171
    • In genomics: 49 out of 6,271
  • Year to date:
    • Site-wide: 712 out of 101,171
  • Since beginning of last month:
    • Site-wide: 4,718 out of 101,171

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 6,687 times
  • Download rankings, all-time:
    • Site-wide: 541 out of 101,171
    • In genomics: 110 out of 6,271
  • Year to date:
    • Site-wide: 807 out of 101,171
  • Since beginning of last month:
    • Site-wide: 914 out of 101,171

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

genomics more details view paper
  • Downloaded 1,492 times
  • Download rankings, all-time:
    • Site-wide: 6,916 out of 101,171
    • In genomics: 1,065 out of 6,271
  • Year to date:
    • Site-wide: 11,669 out of 101,171
  • Since beginning of last month:
    • Site-wide: 59,473 out of 101,171

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

genomics more details view paper
  • Downloaded 803 times
  • Download rankings, all-time:
    • Site-wide: 19,018 out of 101,171
    • In genomics: 2,277 out of 6,271
  • Year to date:
    • Site-wide: 28,168 out of 101,171
  • Since beginning of last month:
    • Site-wide: 20,353 out of 101,171

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

genomics more details view paper
  • Downloaded 484 times
  • Download rankings, all-time:
    • Site-wide: 37,942 out of 101,171
    • In genomics: 3,602 out of 6,271
  • Year to date:
    • Site-wide: 8,029 out of 101,171
  • Since beginning of last month:
    • Site-wide: 2,655 out of 101,171

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