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Author: James Ware

Rankings

  • All-time downloads: 61,655 (rank: 652 out of 426,414)
  • Categories:
    • bioinformatics: 353 (rank: 25,940 (tie) out of 36,234)
    • genetics: 4,679 (rank: 3,614 out of 38,003)
    • genomics: 56,623 (rank: 116 out of 44,644)

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
  • Downloaded 23,222 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 100,936
    • In genomics: 9 out of 6,255
  • Year to date:
    • Site-wide: 151 out of 100,936
  • Since beginning of last month:
    • Site-wide: 361 out of 100,936

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

genomics more details view paper
  • Downloaded 21,837 times
  • Download rankings, all-time:
    • Site-wide: 77 out of 100,936
    • In genomics: 10 out of 6,255
  • Year to date:
    • Site-wide: 18,742 out of 100,936
  • Since beginning of last month:
    • Site-wide: 24,124 out of 100,936

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 4,859 times
  • Download rankings, all-time:
    • Site-wide: 919 out of 100,936
    • In genomics: 183 out of 6,255
  • Year to date:
    • Site-wide: 12,304 out of 100,936
  • Since beginning of last month:
    • Site-wide: 9,310 out of 100,936

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 3,024 times
  • Download rankings, all-time:
    • Site-wide: 2,138 out of 100,936
    • In genomics: 399 out of 6,255
  • Year to date:
    • Site-wide: 5,472 out of 100,936
  • Since beginning of last month:
    • Site-wide: 20,094 out of 100,936

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
  • Downloaded 2,008 times
  • Download rankings, all-time:
    • Site-wide: 4,169 out of 100,936
    • In genetics: 303 out of 5,022
  • Year to date:
    • Site-wide: 51,527 out of 100,936
  • Since beginning of last month:
    • Site-wide: 33,139 out of 100,936

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 1,867 times
  • Download rankings, all-time:
    • Site-wide: 4,748 out of 100,936
    • In genomics: 772 out of 6,255
  • Year to date:
    • Site-wide: 10,385 out of 100,936
  • Since beginning of last month:
    • Site-wide: 24,464 out of 100,936

Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,586 times
  • Download rankings, all-time:
    • Site-wide: 6,219 out of 100,936
    • In genetics: 439 out of 5,022
  • Year to date:
    • Site-wide: 33,932 out of 100,936
  • Since beginning of last month:
    • Site-wide: 27,627 out of 100,936

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

genomics more details view paper
  • Downloaded 1,150 times
  • Download rankings, all-time:
    • Site-wide: 10,722 out of 100,936
    • In genomics: 1,500 out of 6,255
  • Year to date:
    • Site-wide: 54,315 out of 100,936
  • Since beginning of last month:
    • Site-wide: 33,959 out of 100,936

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 664 times
  • Download rankings, all-time:
    • Site-wide: 25,168 out of 100,936
    • In genomics: 2,737 out of 6,255
  • Year to date:
    • Site-wide: 85,298 out of 100,936
  • Since beginning of last month:
    • Site-wide: 62,825 out of 100,936

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

genetics more details view paper
  • Downloaded 649 times
  • Download rankings, all-time:
    • Site-wide: 25,943 out of 100,936
    • In genetics: 1,554 out of 5,022
  • Year to date:
    • Site-wide: 51,376 out of 100,936
  • Since beginning of last month:
    • Site-wide: 43,087 out of 100,936

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

genetics more details view paper
  • Downloaded 436 times
  • Download rankings, all-time:
    • Site-wide: 42,890 out of 100,936
    • In genetics: 2,431 out of 5,022
  • Year to date:
    • Site-wide: 9,431 out of 100,936
  • Since beginning of last month:
    • Site-wide: 26,044 out of 100,936

Annotating high-impact 5'untranslated region variants with the UTRannotator

bioinformatics more details view paper
  • Downloaded 353 times
  • Download rankings, all-time:
    • Site-wide: 53,276 out of 100,936
    • In bioinformatics: 6,015 out of 9,264
  • Year to date:
    • Site-wide: 13,052 out of 100,936
  • Since beginning of last month:
    • Site-wide: 13,460 out of 100,936

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  • 20 Oct 2020: Support for sorting preprints using Twitter activity has been removed, at least temporarily, until a new source of social media activity data becomes available.
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