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Author: Anne H. O’Donnell-Luria

Rankings

  • All-time downloads: 59,349 (rank: 687 out of 426,934)
  • Categories:
    • genetics: 2,354 (rank: 7,056 (tie) out of 38,052)
    • genomics: 56,679 (rank: 115 out of 44,673)
    • systems biology: 316 (rank: 9,296 (tie) out of 12,484)

Downloads per author, site-wide

Preprints

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 101,077
    • In genomics: 10 out of 6,266
  • Year to date:
    • Site-wide: 18,771 out of 101,077
  • Since beginning of last month:
    • Site-wide: 24,358 out of 101,077

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 10,579 times
  • Download rankings, all-time:
    • Site-wide: 253 out of 101,077
    • In genomics: 49 out of 6,266
  • Year to date:
    • Site-wide: 711 out of 101,077
  • Since beginning of last month:
    • Site-wide: 4,612 out of 101,077

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 7,203 times
  • Download rankings, all-time:
    • Site-wide: 479 out of 101,077
    • In genomics: 95 out of 6,266
  • Year to date:
    • Site-wide: 1,188 out of 101,077
  • Since beginning of last month:
    • Site-wide: 1,141 out of 101,077

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,400 times
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    • Site-wide: 769 out of 101,077
    • In genomics: 151 out of 6,266
  • Year to date:
    • Site-wide: 20,546 out of 101,077
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    • Site-wide: 21,070 out of 101,077

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 101,077
    • In genomics: 183 out of 6,266
  • Year to date:
    • Site-wide: 12,325 out of 101,077
  • Since beginning of last month:
    • Site-wide: 9,460 out of 101,077

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: 2,139 out of 101,077
    • In genomics: 398 out of 6,266
  • Year to date:
    • Site-wide: 5,483 out of 101,077
  • Since beginning of last month:
    • Site-wide: 20,307 out of 101,077

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

genomics more details view paper
  • Downloaded 1,492 times
  • Download rankings, all-time:
    • Site-wide: 6,911 out of 101,077
    • In genomics: 1,064 out of 6,266
  • Year to date:
    • Site-wide: 11,634 out of 101,077
  • Since beginning of last month:
    • Site-wide: 59,178 out of 101,077

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

genetics more details view paper
  • Downloaded 1,174 times
  • Download rankings, all-time:
    • Site-wide: 10,357 out of 101,077
    • In genetics: 697 out of 5,028
  • Year to date:
    • Site-wide: 33,759 out of 101,077
  • Since beginning of last month:
    • Site-wide: 20,265 out of 101,077

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

genomics more details view paper
  • Downloaded 1,137 times
  • Download rankings, all-time:
    • Site-wide: 10,925 out of 101,077
    • In genomics: 1,527 out of 6,266
  • Year to date:
    • Site-wide: 42,284 out of 101,077
  • Since beginning of last month:
    • Site-wide: 36,043 out of 101,077

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: 25,174 out of 101,077
    • In genomics: 2,741 out of 6,266
  • Year to date:
    • Site-wide: 85,948 out of 101,077
  • Since beginning of last month:
    • Site-wide: 63,023 out of 101,077

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

genetics more details view paper
  • Downloaded 605 times
  • Download rankings, all-time:
    • Site-wide: 28,601 out of 101,077
    • In genetics: 1,706 out of 5,028
  • Year to date:
    • Site-wide: 54,850 out of 101,077
  • Since beginning of last month:
    • Site-wide: 68,957 out of 101,077

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 575 times
  • Download rankings, all-time:
    • Site-wide: 30,528 out of 101,077
    • In genetics: 1,802 out of 5,028
  • Year to date:
    • Site-wide: 33,641 out of 101,077
  • Since beginning of last month:
    • Site-wide: 49,178 out of 101,077

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

genomics more details view paper
  • Downloaded 484 times
  • Download rankings, all-time:
    • Site-wide: 37,913 out of 101,077
    • In genomics: 3,597 out of 6,266
  • Year to date:
    • Site-wide: 8,002 out of 101,077
  • Since beginning of last month:
    • Site-wide: 2,596 out of 101,077

Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin

systems biology more details view paper
  • Downloaded 316 times
  • Download rankings, all-time:
    • Site-wide: 58,673 out of 101,077
    • In systems biology: 1,683 out of 2,566
  • Year to date:
    • Site-wide: 32,346 out of 101,077
  • Since beginning of last month:
    • Site-wide: 35,003 out of 101,077

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