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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 42,904 bioRxiv papers from 193,370 authors.

Author: Konrad Karczewski

Rankings

  • All-time downloads: 42,642 (rank: 241 out of 193,370)
  • Categories:
    • genetics: 4,358 (rank: 1,726 out of 20,528)
    • genomics: 38,284 (rank: 101 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 42,904
    • In genomics: 4 out of 3,222
  • Year to date:
    • Site-wide: 1,950 out of 42,904
  • Since beginning of last month:
    • Site-wide: 1,950 out of 42,904

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 42,904
    • In genomics: 71 out of 3,222
  • Year to date:
    • Site-wide: 6,961 out of 42,904
  • Since beginning of last month:
    • Site-wide: 6,961 out of 42,904

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 42,904
    • In genomics: 103 out of 3,222
  • Year to date:
    • Site-wide: 6,197 out of 42,904
  • Since beginning of last month:
    • Site-wide: 6,197 out of 42,904

Health and population effects of rare gene knockouts in adult humans with related parents

genomics more details view paper
  • Downloaded 3,833 times
  • Download rankings, all-time:
    • Site-wide: 426 out of 42,904
    • In genomics: 115 out of 3,222
  • Year to date:
    • Site-wide: 8,982 out of 42,904
  • Since beginning of last month:
    • Site-wide: 8,982 out of 42,904

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

genomics more details view paper
  • Downloaded 2,707 times
  • Download rankings, all-time:
    • Site-wide: 838 out of 42,904
    • In genomics: 211 out of 3,222
  • Year to date:
    • Site-wide: 12 out of 42,904
  • Since beginning of last month:
    • Site-wide: 12 out of 42,904

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 1,709 times
  • Download rankings, all-time:
    • Site-wide: 1,874 out of 42,904
    • In genetics: 191 out of 2,590
  • Year to date:
    • Site-wide: 27,280 out of 42,904
  • Since beginning of last month:
    • Site-wide: 27,280 out of 42,904

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

genomics more details view paper
  • Downloaded 1,498 times
  • Download rankings, all-time:
    • Site-wide: 2,312 out of 42,904
    • In genomics: 486 out of 3,222
  • Year to date:
    • Site-wide: 23 out of 42,904
  • Since beginning of last month:
    • Site-wide: 23 out of 42,904

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

genetics more details view paper
  • Downloaded 1,438 times
  • Download rankings, all-time:
    • Site-wide: 2,482 out of 42,904
    • In genetics: 240 out of 2,590
  • Year to date:
    • Site-wide: 29,445 out of 42,904
  • Since beginning of last month:
    • Site-wide: 29,445 out of 42,904

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,211 times
  • Download rankings, all-time:
    • Site-wide: 3,283 out of 42,904
    • In genetics: 304 out of 2,590
  • Year to date:
    • Site-wide: 19,093 out of 42,904
  • Since beginning of last month:
    • Site-wide: 19,093 out of 42,904

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 42,904
    • In genomics: 1,706 out of 3,222
  • Year to date:
    • Site-wide: 8,794 out of 42,904
  • Since beginning of last month:
    • Site-wide: 8,794 out of 42,904

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