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Author: Nicola Whiffin

Rankings

  • All-time downloads: 39,969 (rank: 1,013 out of 404,161)
  • Categories:
    • bioinformatics: 287 (rank: 26,849 (tie) out of 34,272)
    • genetics: 1,017 (rank: 13,237 (tie) out of 36,792)
    • genomics: 38,665 (rank: 172 out of 42,763)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
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    • Site-wide: 69 out of 94,912
    • In genomics: 9 out of 5,955
  • Year to date:
    • Site-wide: 147 out of 94,912
  • Since beginning of last month:
    • Site-wide: 506 out of 94,912

Using high-resolution variant frequencies to empower clinical genome interpretation

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  • Downloaded 4,765 times
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    • Site-wide: 885 out of 94,912
    • In genomics: 183 out of 5,955
  • Year to date:
    • Site-wide: 13,746 out of 94,912
  • Since beginning of last month:
    • Site-wide: 14,468 out of 94,912

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 4,321 times
  • Download rankings, all-time:
    • Site-wide: 1,054 out of 94,912
    • In genomics: 217 out of 5,955
  • Year to date:
    • Site-wide: 3,176 out of 94,912
  • Since beginning of last month:
    • Site-wide: 4,616 out of 94,912

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

genomics more details view paper
  • Downloaded 2,969 times
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    • In genomics: 389 out of 5,955
  • Year to date:
    • Site-wide: 4,567 out of 94,912
  • Since beginning of last month:
    • Site-wide: 14,290 out of 94,912

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 1,821 times
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    • Site-wide: 4,548 out of 94,912
    • In genomics: 756 out of 5,955
  • Year to date:
    • Site-wide: 8,936 out of 94,912
  • Since beginning of last month:
    • Site-wide: 19,731 out of 94,912

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

genomics more details view paper
  • Downloaded 1,120 times
  • Download rankings, all-time:
    • Site-wide: 10,217 out of 94,912
    • In genomics: 1,466 out of 5,955
  • Year to date:
    • Site-wide: 56,329 out of 94,912
  • Since beginning of last month:
    • Site-wide: 40,292 out of 94,912

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 650 times
  • Download rankings, all-time:
    • Site-wide: 23,711 out of 94,912
    • In genomics: 2,627 out of 5,955
  • Year to date:
    • Site-wide: 82,578 out of 94,912
  • Since beginning of last month:
    • Site-wide: 83,952 out of 94,912

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 623 times
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    • Site-wide: 25,167 out of 94,912
    • In genetics: 1,544 out of 4,824
  • Year to date:
    • Site-wide: 49,673 out of 94,912
  • Since beginning of last month:
    • Site-wide: 46,992 out of 94,912

Genomics of Egyptian Healthy Volunteers: The EHVol Study

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  • Downloaded 560 times
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    • Site-wide: 28,973 out of 94,912
    • In genomics: 2,992 out of 5,955
  • Year to date:
    • Site-wide: 35,371 out of 94,912
  • Since beginning of last month:
    • Site-wide: 24,052 out of 94,912

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

genetics more details view paper
  • Downloaded 394 times
  • Download rankings, all-time:
    • Site-wide: 43,923 out of 94,912
    • In genetics: 2,517 out of 4,824
  • Year to date:
    • Site-wide: 7,852 out of 94,912
  • Since beginning of last month:
    • Site-wide: 20,008 out of 94,912

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

bioinformatics more details view paper
  • Downloaded 287 times
  • Download rankings, all-time:
    • Site-wide: 58,577 out of 94,912
    • In bioinformatics: 6,365 out of 8,837
  • Year to date:
    • Site-wide: 12,739 out of 94,912
  • Since beginning of last month:
    • Site-wide: 11,493 out of 94,912

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