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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 48,042 bioRxiv papers from 215,431 authors.

Author: Anne O'Donnell-Luria

Rankings

  • All-time downloads: 36,526 (rank: 313 out of 215,431)
  • Categories:
    • genetics: 1,033 (rank: 6,832 (tie) out of 21,890)
    • genomics: 35,493 (rank: 120 out of 25,614)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,016 times
  • Download rankings, all-time:
    • Site-wide: 21 out of 48,042
    • In genomics: 5 out of 3,522
  • Year to date:
    • Site-wide: 3,977 out of 48,042
  • Since beginning of last month:
    • Site-wide: 8,604 out of 48,042

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 4,934 times
  • Download rankings, all-time:
    • Site-wide: 295 out of 48,042
    • In genomics: 79 out of 3,522
  • Year to date:
    • Site-wide: 8,184 out of 48,042
  • Since beginning of last month:
    • Site-wide: 7,145 out of 48,042

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 4,135 times
  • Download rankings, all-time:
    • Site-wide: 416 out of 48,042
    • In genomics: 114 out of 3,522
  • Year to date:
    • Site-wide: 4,331 out of 48,042
  • Since beginning of last month:
    • Site-wide: 3,528 out of 48,042

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 3,642 times
  • Download rankings, all-time:
    • Site-wide: 549 out of 48,042
    • In genomics: 146 out of 3,522
  • Year to date:
    • Site-wide: 23 out of 48,042
  • Since beginning of last month:
    • Site-wide: 5 out of 48,042

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
  • Downloaded 1,270 times
  • Download rankings, all-time:
    • Site-wide: 3,420 out of 48,042
    • In genomics: 661 out of 3,522
  • Year to date:
    • Site-wide: 144 out of 48,042
  • Since beginning of last month:
    • Site-wide: 382 out of 48,042

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

genetics more details view paper
  • Downloaded 831 times
  • Download rankings, all-time:
    • Site-wide: 6,653 out of 48,042
    • In genetics: 541 out of 2,854
  • Year to date:
    • Site-wide: 20,434 out of 48,042
  • Since beginning of last month:
    • Site-wide: 21,933 out of 48,042

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 496 times
  • Download rankings, all-time:
    • Site-wide: 13,545 out of 48,042
    • In genomics: 1,781 out of 3,522
  • Year to date:
    • Site-wide: 15,859 out of 48,042
  • Since beginning of last month:
    • Site-wide: 23,816 out of 48,042

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

genetics more details view paper
  • Downloaded 202 times
  • Download rankings, all-time:
    • Site-wide: 30,354 out of 48,042
    • In genetics: 1,985 out of 2,854
  • Year to date:
    • Site-wide: 4,075 out of 48,042
  • Since beginning of last month:
    • Site-wide: 888 out of 48,042

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