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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 65,568 bioRxiv papers from 290,397 authors.

Author: David N. Cooper

  • Most recently observed institution: Cardiff University

Rankings

  • All-time downloads: 28,468 (rank: 678 (tie) out of 290,397)
  • Categories:
    • bioinformatics: 2,872 (rank: 2,442 (tie) out of 25,257)
    • genetics: 3,300 (rank: 3,656 (tie) out of 28,781)
    • genomics: 22,296 (rank: 286 out of 33,033)

Downloads per author, site-wide

Preprints

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

genetics more details view paper

No bioRxiv download data for this paper yet.

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

genomics more details view paper
  • Downloaded 21,512 times
  • Download rankings, all-time:
    • Site-wide: 25 out of 65,568
    • In genomics: 7 out of 4,467
  • Year to date:
    • Site-wide: 3,306 out of 65,568
  • Since beginning of last month:
    • Site-wide: 4,583 out of 65,568

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

bioinformatics more details view paper
  • Downloaded 2,594 times
  • Download rankings, all-time:
    • Site-wide: 1,472 out of 65,568
    • In bioinformatics: 290 out of 6,492
  • Year to date:
    • Site-wide: 2,897 out of 65,568
  • Since beginning of last month:
    • Site-wide: 5,123 out of 65,568

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

genetics more details view paper
  • Downloaded 1,719 times
  • Download rankings, all-time:
    • Site-wide: 3,068 out of 65,568
    • In genetics: 267 out of 3,702
  • Year to date:
    • Site-wide: 6,818 out of 65,568
  • Since beginning of last month:
    • Site-wide: 4,430 out of 65,568

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

genetics more details view paper
  • Downloaded 488 times
  • Download rankings, all-time:
    • Site-wide: 20,985 out of 65,568
    • In genetics: 1,412 out of 3,702
  • Year to date:
    • Site-wide: 53,658 out of 65,568
  • Since beginning of last month:
    • Site-wide: 37,367 out of 65,568

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

genetics more details view paper
  • Downloaded 448 times
  • Download rankings, all-time:
    • Site-wide: 23,245 out of 65,568
    • In genetics: 1,550 out of 3,702
  • Year to date:
    • Site-wide: 10,456 out of 65,568
  • Since beginning of last month:
    • Site-wide: 10,969 out of 65,568

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

genomics more details view paper
  • Downloaded 443 times
  • Download rankings, all-time:
    • Site-wide: 23,528 out of 65,568
    • In genomics: 2,577 out of 4,467
  • Year to date:
    • Site-wide: 24,238 out of 65,568
  • Since beginning of last month:
    • Site-wide: 41,125 out of 65,568

Developmental gene expression differences between humans and mammalian models

genomics more details view paper
  • Downloaded 341 times
  • Download rankings, all-time:
    • Site-wide: 31,090 out of 65,568
    • In genomics: 3,054 out of 4,467
  • Year to date:
    • Site-wide: 11,011 out of 65,568
  • Since beginning of last month:
    • Site-wide: 4,595 out of 65,568

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 298 times
  • Download rankings, all-time:
    • Site-wide: 35,202 out of 65,568
    • In genetics: 2,199 out of 3,702
  • Year to date:
    • Site-wide: 27,072 out of 65,568
  • Since beginning of last month:
    • Site-wide: 37,243 out of 65,568

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

bioinformatics more details view paper
  • Downloaded 278 times
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    • Site-wide: 37,197 out of 65,568
    • In bioinformatics: 4,539 out of 6,492
  • Year to date:
    • Site-wide: 14,938 out of 65,568
  • Since beginning of last month:
    • Site-wide: 20,499 out of 65,568

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

genetics more details view paper
  • Downloaded 159 times
  • Download rankings, all-time:
    • Site-wide: 52,351 out of 65,568
    • In genetics: 3,087 out of 3,702
  • Year to date:
    • Site-wide: 30,350 out of 65,568
  • Since beginning of last month:
    • Site-wide: 2,112 out of 65,568

Genetic analysis of the STIM1 gene in chronic pancreatitis

genetics more details view paper
  • Downloaded 114 times
  • Download rankings, all-time:
    • Site-wide: 58,511 out of 65,568
    • In genetics: 3,384 out of 3,702
  • Year to date:
    • Site-wide: 41,096 out of 65,568
  • Since beginning of last month:
    • Site-wide: 28,151 out of 65,568

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

genetics more details view paper
  • Downloaded 74 times
  • Download rankings, all-time:
    • Site-wide: 62,547 out of 65,568
    • In genetics: 3,576 out of 3,702
  • Year to date:
    • Site-wide: 54,746 out of 65,568
  • Since beginning of last month:
    • Site-wide: 6,636 out of 65,568

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