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Author: David N. Cooper

  • Most recently observed institution: Cardiff University

Rankings

  • All-time downloads: 31,445 (rank: 1,431 out of 394,911)
  • Categories:
    • bioinformatics: 3,707 (rank: 2,683 (tie) out of 33,523)
    • genetics: 4,624 (rank: 3,517 out of 36,178)
    • genomics: 23,114 (rank: 345 out of 41,981)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
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    • In genomics: 10 out of 5,833
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    • Site-wide: 17,453 out of 92,466
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    • Site-wide: 18,187 out of 92,466

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

bioinformatics more details view paper
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    • In bioinformatics: 286 out of 8,669
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    • Site-wide: 2,385 out of 92,466

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

genetics more details view paper
  • Downloaded 1,993 times
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    • In genetics: 284 out of 4,744
  • Year to date:
    • Site-wide: 18,833 out of 92,466
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    • Site-wide: 37,015 out of 92,466

Developmental gene expression differences between humans and mammalian models

genomics more details view paper
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    • In genomics: 2,457 out of 5,833
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AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

genetics more details view paper
  • Downloaded 612 times
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    • In genetics: 1,544 out of 4,744
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    • Site-wide: 30,828 out of 92,466

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

genetics more details view paper
  • Downloaded 545 times
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    • In genetics: 1,757 out of 4,744
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    • Site-wide: 67,777 out of 92,466

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

genomics more details view paper
  • Downloaded 532 times
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    • In genomics: 3,061 out of 5,833
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    • Site-wide: 41,562 out of 92,466

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

bioinformatics more details view paper
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    • Site-wide: 34,223 out of 92,466

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
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    • In genetics: 2,481 out of 4,744
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    • Site-wide: 57,451 out of 92,466
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    • Site-wide: 80,804 out of 92,466

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

genetics more details view paper
  • Downloaded 345 times
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    • Site-wide: 48,765 out of 92,466
    • In genetics: 2,776 out of 4,744
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    • Site-wide: 21,145 out of 92,466
  • Since beginning of last month:
    • Site-wide: 28,780 out of 92,466

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

genetics more details view paper
  • Downloaded 265 times
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    • In genetics: 3,349 out of 4,744
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    • Site-wide: 30,872 out of 92,466
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    • Site-wide: 57,323 out of 92,466

Genetic analysis of the STIM1 gene in chronic pancreatitis

genetics more details view paper
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    • In genetics: 3,948 out of 4,744
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  • Since beginning of last month:
    • Site-wide: 84,209 out of 92,466

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

genetics more details view paper
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    • In genetics: 4,229 out of 4,744
  • Year to date:
    • Site-wide: 69,758 out of 92,466
  • Since beginning of last month:
    • Site-wide: 74,187 out of 92,466

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

genetics more details view paper
  • Downloaded 130 times
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    • Site-wide: 82,404 out of 92,466
    • In genetics: 4,349 out of 4,744
  • Year to date:
    • Site-wide: 33,497 out of 92,466
  • Since beginning of last month:
    • Site-wide: 73,805 out of 92,466

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

genomics more details view paper
  • Downloaded 127 times
  • Download rankings, all-time:
    • Site-wide: 82,738 out of 92,466
    • In genomics: 5,478 out of 5,833
  • Year to date:
    • Site-wide: 34,539 out of 92,466
  • Since beginning of last month:
    • Site-wide: 21,640 out of 92,466

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