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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 42,935 bioRxiv papers from 193,623 authors.

Author: Anne O'Donnell-Luria

Rankings

  • All-time downloads: 31,040 (rank: 366 out of 193,624)
  • Categories:
    • genetics: 794 (rank: 7,448 (tie) out of 20,528)
    • genomics: 30,246 (rank: 137 out of 23,994)

Downloads per author, site-wide

Preprints

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

genomics 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 20,933 times
  • Download rankings, all-time:
    • Site-wide: 17 out of 42,935
    • In genomics: 4 out of 3,227
  • Year to date:
    • Site-wide: 1,950 out of 42,935
  • Since beginning of last month:
    • Site-wide: 1,950 out of 42,935

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 4,856 times
  • Download rankings, all-time:
    • Site-wide: 267 out of 42,935
    • In genomics: 71 out of 3,227
  • Year to date:
    • Site-wide: 6,961 out of 42,935
  • Since beginning of last month:
    • Site-wide: 6,961 out of 42,935

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 3,993 times
  • Download rankings, all-time:
    • Site-wide: 386 out of 42,935
    • In genomics: 103 out of 3,227
  • Year to date:
    • Site-wide: 6,197 out of 42,935
  • Since beginning of last month:
    • Site-wide: 6,197 out of 42,935

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
  • Downloaded 794 times
  • Download rankings, all-time:
    • Site-wide: 6,290 out of 42,935
    • In genetics: 521 out of 2,594
  • Year to date:
    • Site-wide: 18,502 out of 42,935
  • Since beginning of last month:
    • Site-wide: 18,502 out of 42,935

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 464 times
  • Download rankings, all-time:
    • Site-wide: 12,948 out of 42,935
    • In genomics: 1,706 out of 3,227
  • Year to date:
    • Site-wide: 8,794 out of 42,935
  • Since beginning of last month:
    • Site-wide: 8,794 out of 42,935

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