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Author: Eleanor G Seaby

Rankings

  • All-time downloads: 31,584 (rank: 8,719 )
  • Categories:
    • genetic and genomic medicine: 476 (rank: 12,282 (tie) )
    • genetics: 607 (rank: 29,622 (tie) )
    • genomics: 30,090 (rank: 465 (tie) )

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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: 4,001
  • Since beginning of last month:
    • Site-wide: 2,826

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,126 times
  • Download rankings, all-time:
    • Site-wide: 4,460
    • In genomics: 399
  • Year to date:
    • Site-wide: 80,668
  • Since beginning of last month:
    • Site-wide: 68,116

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

genetics more details view paper
  • Downloaded 633 times
  • Download rankings, all-time:
    • Site-wide: 75,133
    • In genetics: 2,873
  • Year to date:
    • Site-wide: 159,209
  • Since beginning of last month:
    • Site-wide: 58,939

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

genetic and genomic medicine more details view paper
  • Downloaded 285 times
  • Download rankings, all-time:
    • Site-wide: 159,124
    • In genetic and genomic medicine: 1,100
  • Year to date:
    • Site-wide: 74,083
  • Since beginning of last month:
    • Site-wide: None

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

genetic and genomic medicine more details view paper
  • Downloaded 276 times
  • Download rankings, all-time:
    • Site-wide: 161,754
    • In genetic and genomic medicine: 1,196
  • Year to date:
    • Site-wide: 28,382
  • Since beginning of last month:
    • Site-wide: 52,037

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