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Author: David N. Cooper

  • Most recently observed institution: Cardiff University

Rankings

  • All-time downloads: 31,663 (rank: 1,554 out of 424,546)
  • Categories:
    • bioinformatics: 3,755 (rank: 2,801 (tie) out of 35,993)
    • genetics: 4,727 (rank: 3,528 out of 37,787)
    • genomics: 23,181 (rank: 374 out of 44,315)

Downloads per author, site-wide

Preprints

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
  • Downloaded 21,775 times
  • Download rankings, all-time:
    • Site-wide: 74 out of 100,510
    • In genomics: 10 out of 6,229
  • Year to date:
    • Site-wide: 22,602 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

bioinformatics more details view paper
  • Downloaded 3,343 times
  • Download rankings, all-time:
    • Site-wide: 1,700 out of 100,510
    • In bioinformatics: 295 out of 9,232
  • Year to date:
    • Site-wide: 4,306 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

genetics more details view paper
  • Downloaded 2,007 times
  • Download rankings, all-time:
    • Site-wide: 3,985 out of 100,510
    • In genetics: 293 out of 5,008
  • Year to date:
    • Site-wide: 22,355 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

Developmental gene expression differences between humans and mammalian models

genomics more details view paper
  • Downloaded 708 times
  • Download rankings, all-time:
    • Site-wide: 21,706 out of 100,510
    • In genomics: 2,473 out of 6,229
  • Year to date:
    • Site-wide: 12,876 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

genetics more details view paper
  • Downloaded 622 times
  • Download rankings, all-time:
    • Site-wide: 26,151 out of 100,510
    • In genetics: 1,581 out of 5,008
  • Year to date:
    • Site-wide: 35,632 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

genetics more details view paper
  • Downloaded 545 times
  • Download rankings, all-time:
    • Site-wide: 31,078 out of 100,510
    • In genetics: 1,826 out of 5,008
  • Year to date:
    • Site-wide: 92,105 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

genomics more details view paper
  • Downloaded 544 times
  • Download rankings, all-time:
    • Site-wide: 31,180 out of 100,510
    • In genomics: 3,146 out of 6,229
  • Year to date:
    • Site-wide: 58,376 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

genetics more details view paper
  • Downloaded 418 times
  • Download rankings, all-time:
    • Site-wide: 42,726 out of 100,510
    • In genetics: 2,424 out of 5,008
  • Year to date:
    • Site-wide: 53,821 out of 100,510
  • Since beginning of last month:
    • Site-wide: 17,232 out of 100,510

RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

bioinformatics more details view paper
  • Downloaded 412 times
  • Download rankings, all-time:
    • Site-wide: 43,419 out of 100,510
    • In bioinformatics: 5,215 out of 9,232
  • Year to date:
    • Site-wide: 56,552 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

genetics more details view paper
  • Downloaded 364 times
  • Download rankings, all-time:
    • Site-wide: 49,282 out of 100,510
    • In genetics: 2,770 out of 5,008
  • Year to date:
    • Site-wide: 23,966 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

The experimentally obtained functional impact assessments of GT>GC 5' splice site variants differ markedly from those predicted

genetics more details view paper
  • Downloaded 288 times
  • Download rankings, all-time:
    • Site-wide: 60,411 out of 100,510
    • In genetics: 3,312 out of 5,008
  • Year to date:
    • Site-wide: 32,457 out of 100,510
  • Since beginning of last month:
    • Site-wide: 21,559 out of 100,510

Genetic analysis of the STIM1 gene in chronic pancreatitis

genetics more details view paper
  • Downloaded 193 times
  • Download rankings, all-time:
    • Site-wide: 77,015 out of 100,510
    • In genetics: 4,084 out of 5,008
  • Year to date:
    • Site-wide: 77,090 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

5' splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

genetics more details view paper
  • Downloaded 154 times
  • Download rankings, all-time:
    • Site-wide: 83,593 out of 100,510
    • In genetics: 4,381 out of 5,008
  • Year to date:
    • Site-wide: 80,280 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome

genomics more details view paper
  • Downloaded 154 times
  • Download rankings, all-time:
    • Site-wide: 83,637 out of 100,510
    • In genomics: 5,619 out of 6,229
  • Year to date:
    • Site-wide: 34,536 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism

genetics more details view paper
  • Downloaded 136 times
  • Download rankings, all-time:
    • Site-wide: 86,254 out of 100,510
    • In genetics: 4,501 out of 5,008
  • Year to date:
    • Site-wide: 40,039 out of 100,510
  • Since beginning of last month:
    • Site-wide: None out of 100,510

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