Author: David N. Cooper

Downloads per author, site-wide

Preprints

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

• Downloaded 21,774 times
• Download rankings, all-time:
  • Site-wide: 70 out of 92,466
  • In genomics: 10 out of 5,833
• Year to date:
  • Site-wide: 17,453 out of 92,466
• Since beginning of last month:
  • Site-wide: 18,187 out of 92,466

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

• Downloaded 3,306 times
• Download rankings, all-time:
  • Site-wide: 1,610 out of 92,466
  • In bioinformatics: 286 out of 8,669
• Year to date:
  • Site-wide: 3,561 out of 92,466
• Since beginning of last month:
  • Site-wide: 2,385 out of 92,466

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

• Downloaded 1,993 times
• Download rankings, all-time:
  • Site-wide: 3,795 out of 92,466
  • In genetics: 284 out of 4,744
• Year to date:
  • Site-wide: 18,833 out of 92,466
• Since beginning of last month:
  • Site-wide: 37,015 out of 92,466

Developmental gene expression differences between humans and mammalian models

• Downloaded 681 times
• Download rankings, all-time:
  • Site-wide: 21,503 out of 92,466
  • In genomics: 2,457 out of 5,833
• Year to date:
  • Site-wide: 11,123 out of 92,466
• Since beginning of last month:
  • Site-wide: 21,388 out of 92,466

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

• Downloaded 612 times
• Download rankings, all-time:
  • Site-wide: 25,063 out of 92,466
  • In genetics: 1,544 out of 4,744
• Year to date:
  • Site-wide: 30,498 out of 92,466
• Since beginning of last month:
  • Site-wide: 30,828 out of 92,466

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

• Downloaded 545 times
• Download rankings, all-time:
  • Site-wide: 29,130 out of 92,466
  • In genetics: 1,757 out of 4,744
• Year to date:
  • Site-wide: 81,941 out of 92,466
• Since beginning of last month:
  • Site-wide: 67,777 out of 92,466

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

• Downloaded 532 times
• Download rankings, all-time:
  • Site-wide: 30,070 out of 92,466
  • In genomics: 3,061 out of 5,833
• Year to date:
  • Site-wide: 54,397 out of 92,466
• Since beginning of last month:
  • Site-wide: 41,562 out of 92,466

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

• Downloaded 401 times
• Download rankings, all-time:
  • Site-wide: 41,894 out of 92,466
  • In bioinformatics: 5,037 out of 8,669
• Year to date:
  • Site-wide: 51,856 out of 92,466
• Since beginning of last month:
  • 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

• Downloaded 393 times
• Download rankings, all-time:
  • Site-wide: 42,762 out of 92,466
  • In genetics: 2,481 out of 4,744
• Year to date:
  • Site-wide: 57,451 out of 92,466
• Since beginning of last month:
  • Site-wide: 80,804 out of 92,466

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

• Downloaded 345 times
• Download rankings, all-time:
  • Site-wide: 48,765 out of 92,466
  • In genetics: 2,776 out of 4,744
• Year to date:
  • 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

• Downloaded 265 times
• Download rankings, all-time:
  • Site-wide: 60,404 out of 92,466
  • In genetics: 3,349 out of 4,744
• Year to date:
  • Site-wide: 30,872 out of 92,466
• Since beginning of last month:
  • Site-wide: 57,323 out of 92,466

Genetic analysis of the STIM1 gene in chronic pancreatitis

• Downloaded 189 times
• Download rankings, all-time:
  • Site-wide: 73,388 out of 92,466
  • In genetics: 3,948 out of 4,744
• Year to date:
  • Site-wide: 67,842 out of 92,466
• 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

• Downloaded 152 times
• Download rankings, all-time:
  • Site-wide: 79,413 out of 92,466
  • 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

• Downloaded 130 times
• Download rankings, all-time:
  • 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

• 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