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Author: Laura D Gauthier

  • Most recently observed institution: Broad Institute

Rankings

  • All-time downloads: 61,948 (rank: 3,948 )
  • Categories:
    • genetic and genomic medicine: 6,202 (rank: 455 (tie) )
    • genomics: 53,460 (rank: 266 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,002
  • Since beginning of last month:
    • Site-wide: 2,891

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 12,395 times
  • Download rankings, all-time:
    • Site-wide: 1,039
    • In genomics: 65
  • Year to date:
    • Site-wide: 840
  • Since beginning of last month:
    • Site-wide: 356

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
  • Download rankings, all-time:
    • Site-wide: 1,117
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,207
  • Since beginning of last month:
    • Site-wide: 18,772

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 6,394 times
  • Download rankings, all-time:
    • Site-wide: 2,444
    • In genetic and genomic medicine: 12
  • Year to date:
    • Site-wide: 1,099
  • Since beginning of last month:
    • Site-wide: 23,391

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

genomics more details view paper
  • Downloaded 1,710 times
  • Download rankings, all-time:
    • Site-wide: 16,526
    • In genomics: 1,474
  • Year to date:
    • Site-wide: 124,302
  • Since beginning of last month:
    • Site-wide: 47,216

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

genomics more details view paper
  • Downloaded 1,455 times
  • Download rankings, all-time:
    • Site-wide: 21,347
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 18,502
  • Since beginning of last month:
    • Site-wide: 12,442

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

genomics more details view paper
  • Downloaded 1,337 times
  • Download rankings, all-time:
    • Site-wide: 24,409
    • In genomics: 2,139
  • Year to date:
    • Site-wide: 48,936
  • Since beginning of last month:
    • Site-wide: 79,346

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

genomics more details view paper
  • Downloaded 717 times
  • Download rankings, all-time:
    • Site-wide: 63,291
    • In genomics: None
  • Year to date:
    • Site-wide: 5,918
  • Since beginning of last month:
    • Site-wide: 480

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