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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 73,599 bioRxiv papers from 320,228 authors.

Author: Konrad J. Karczewski

Rankings

  • All-time downloads: 65,394 (rank: 232 out of 320,330)
  • Categories:
    • genetics: 3,345 (rank: 3,944 (tie) out of 31,407)
    • genomics: 62,049 (rank: 101 out of 35,714)

Downloads per author, site-wide

Preprints

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
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    • Site-wide: 49 out of 73,613
    • In genomics: 10 out of 4,882
  • Year to date:
    • Site-wide: 89 out of 73,613
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    • Site-wide: 89 out of 73,613

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 8,772 times
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    • Site-wide: 185 out of 73,613
    • In genomics: 51 out of 4,882
  • Year to date:
    • Site-wide: 336 out of 73,613
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    • Site-wide: 336 out of 73,613

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,755 times
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    • Site-wide: 393 out of 73,613
    • In genomics: 96 out of 4,882
  • Year to date:
    • Site-wide: 1,544 out of 73,613
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    • Site-wide: 1,544 out of 73,613

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,173 times
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    • In genomics: 115 out of 4,882
  • Year to date:
    • Site-wide: 22,650 out of 73,613
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    • Site-wide: 22,650 out of 73,613

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 4,554 times
  • Download rankings, all-time:
    • Site-wide: 608 out of 73,613
    • In genomics: 150 out of 4,882
  • Year to date:
    • Site-wide: 10,107 out of 73,613
  • Since beginning of last month:
    • Site-wide: 10,107 out of 73,613

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

genomics more details view paper
  • Downloaded 3,767 times
  • Download rankings, all-time:
    • Site-wide: 872 out of 73,613
    • In genomics: 214 out of 4,882
  • Year to date:
    • Site-wide: 2,750 out of 73,613
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    • Site-wide: 2,750 out of 73,613

Efficient genotype compression and analysis of large genetic variation datasets

genomics more details view paper
  • Downloaded 3,173 times
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    • In genomics: 274 out of 4,882
  • Year to date:
    • Site-wide: 37,137 out of 73,613
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    • Site-wide: 37,137 out of 73,613

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,576 times
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    • Site-wide: 1,731 out of 73,613
    • In genomics: 375 out of 4,882
  • Year to date:
    • Site-wide: 4,574 out of 73,613
  • Since beginning of last month:
    • Site-wide: 4,574 out of 73,613

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 2,516 times
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    • Site-wide: 1,824 out of 73,613
    • In genomics: 391 out of 4,882
  • Year to date:
    • Site-wide: 4,876 out of 73,613
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    • Site-wide: 4,876 out of 73,613

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

genetics more details view paper
  • Downloaded 1,898 times
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    • Site-wide: 2,979 out of 73,613
    • In genetics: 257 out of 4,035
  • Year to date:
    • Site-wide: 48,772 out of 73,613
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    • Site-wide: 48,772 out of 73,613

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,876 times
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    • Site-wide: 3,040 out of 73,613
    • In genomics: 596 out of 4,882
  • Year to date:
    • Site-wide: 67,685 out of 73,613
  • Since beginning of last month:
    • Site-wide: 67,685 out of 73,613

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

genomics more details view paper
  • Downloaded 1,550 times
  • Download rankings, all-time:
    • Site-wide: 4,226 out of 73,613
    • In genomics: 755 out of 4,882
  • Year to date:
    • Site-wide: 6,093 out of 73,613
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    • Site-wide: 6,093 out of 73,613

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,447 times
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    • Site-wide: 4,735 out of 73,613
    • In genetics: 389 out of 4,035
  • Year to date:
    • Site-wide: 64,723 out of 73,613
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    • Site-wide: 64,723 out of 73,613

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

genomics more details view paper
  • Downloaded 1,174 times
  • Download rankings, all-time:
    • Site-wide: 6,698 out of 73,613
    • In genomics: 1,083 out of 4,882
  • Year to date:
    • Site-wide: 9,941 out of 73,613
  • Since beginning of last month:
    • Site-wide: 9,941 out of 73,613

Determining the impact of putative loss-of-function variants in protein-coding genes

genomics more details view paper
  • Downloaded 1,158 times
  • Download rankings, all-time:
    • Site-wide: 6,863 out of 73,613
    • In genomics: 1,103 out of 4,882
  • Year to date:
    • Site-wide: 31,293 out of 73,613
  • Since beginning of last month:
    • Site-wide: 31,293 out of 73,613

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,061 times
  • Download rankings, all-time:
    • Site-wide: 7,934 out of 73,613
    • In genomics: 1,249 out of 4,882
  • Year to date:
    • Site-wide: 60,333 out of 73,613
  • Since beginning of last month:
    • Site-wide: 60,333 out of 73,613

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,003 times
  • Download rankings, all-time:
    • Site-wide: 8,688 out of 73,613
    • In genomics: 1,344 out of 4,882
  • Year to date:
    • Site-wide: 70,055 out of 73,613
  • Since beginning of last month:
    • Site-wide: 70,055 out of 73,613

Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-Δ32 and other variants in gnomAD

genomics more details view paper
  • Downloaded 638 times
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    • Site-wide: 17,304 out of 73,613
    • In genomics: 2,130 out of 4,882
  • Year to date:
    • Site-wide: 16,164 out of 73,613
  • Since beginning of last month:
    • Site-wide: 16,164 out of 73,613

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 612 times
  • Download rankings, all-time:
    • Site-wide: 18,364 out of 73,613
    • In genomics: 2,214 out of 4,882
  • Year to date:
    • Site-wide: 51,688 out of 73,613
  • Since beginning of last month:
    • Site-wide: 51,688 out of 73,613

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