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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: Konrad Karczewski

Rankings

  • All-time downloads: 50,450 (rank: 216 out of 215,431)
  • Categories:
    • genetics: 4,452 (rank: 1,819 (tie) out of 21,890)
    • genomics: 45,998 (rank: 99 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

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 6,140 times
  • Download rankings, all-time:
    • Site-wide: 197 out of 48,042
    • In genomics: 59 out of 3,522
  • Year to date:
    • Site-wide: 10 out of 48,042
  • Since beginning of last month:
    • Site-wide: 42 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

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

genomics more details view paper
  • Downloaded 3,878 times
  • Download rankings, all-time:
    • Site-wide: 471 out of 48,042
    • In genomics: 128 out of 3,522
  • Year to date:
    • Site-wide: 13,449 out of 48,042
  • Since beginning of last month:
    • Site-wide: 16,829 out of 48,042

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

genomics more details view paper
  • Downloaded 2,102 times
  • Download rankings, all-time:
    • Site-wide: 1,467 out of 48,042
    • In genomics: 338 out of 3,522
  • Year to date:
    • Site-wide: 51 out of 48,042
  • Since beginning of last month:
    • Site-wide: 404 out of 48,042

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

genetics more details view paper
  • Downloaded 1,738 times
  • Download rankings, all-time:
    • Site-wide: 2,038 out of 48,042
    • In genetics: 200 out of 2,854
  • Year to date:
    • Site-wide: 26,713 out of 48,042
  • Since beginning of last month:
    • Site-wide: 23,299 out of 48,042

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

genetics more details view paper
  • Downloaded 1,476 times
  • Download rankings, all-time:
    • Site-wide: 2,671 out of 48,042
    • In genetics: 248 out of 2,854
  • Year to date:
    • Site-wide: 23,138 out of 48,042
  • Since beginning of last month:
    • Site-wide: 17,699 out of 48,042

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 1,296 times
  • Download rankings, all-time:
    • Site-wide: 3,306 out of 48,042
    • In genomics: 645 out of 3,522
  • Year to date:
    • Site-wide: 134 out of 48,042
  • Since beginning of last month:
    • Site-wide: 298 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

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

genetics more details view paper
  • Downloaded 1,238 times
  • Download rankings, all-time:
    • Site-wide: 3,566 out of 48,042
    • In genetics: 319 out of 2,854
  • Year to date:
    • Site-wide: 24,066 out of 48,042
  • Since beginning of last month:
    • Site-wide: 36,112 out of 48,042

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease

genomics more details view paper
  • Downloaded 731 times
  • Download rankings, all-time:
    • Site-wide: 8,049 out of 48,042
    • In genomics: 1,229 out of 3,522
  • Year to date:
    • Site-wide: 414 out of 48,042
  • Since beginning of last month:
    • Site-wide: 189 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

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