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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 64,753 bioRxiv papers from 287,057 authors.

Author: Konrad J. Karczewski

  • Most recently observed institution: Center for Genomic Medicine, Massachusetts General Hospital

Rankings

  • All-time downloads: 54,614 (rank: 234 out of 287,057)
  • Categories:
    • genetics: 5,540 (rank: 2,594 out of 28,511)
    • genomics: 49,074 (rank: 108 out of 32,599)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,492 times
  • Download rankings, all-time:
    • Site-wide: 24 out of 64,753
    • In genomics: 6 out of 4,433
  • Year to date:
    • Site-wide: 3,276 out of 64,753
  • Since beginning of last month:
    • Site-wide: 4,325 out of 64,753

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 7,504 times
  • Download rankings, all-time:
    • Site-wide: 198 out of 64,753
    • In genomics: 57 out of 4,433
  • Year to date:
    • Site-wide: 42 out of 64,753
  • Since beginning of last month:
    • Site-wide: 77 out of 64,753

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,259 times
  • Download rankings, all-time:
    • Site-wide: 386 out of 64,753
    • In genomics: 100 out of 4,433
  • Year to date:
    • Site-wide: 818 out of 64,753
  • Since beginning of last month:
    • Site-wide: 1,400 out of 64,753

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,106 times
  • Download rankings, all-time:
    • Site-wide: 399 out of 64,753
    • In genomics: 106 out of 4,433
  • Year to date:
    • Site-wide: 12,966 out of 64,753
  • Since beginning of last month:
    • Site-wide: 28,724 out of 64,753

Efficient genotype compression and analysis of large genetic variation datasets

genomics more details view paper
  • Downloaded 3,113 times
  • Download rankings, all-time:
    • Site-wide: 1,035 out of 64,753
    • In genomics: 253 out of 4,433
  • Year to date:
    • Site-wide: 24,648 out of 64,753
  • Since beginning of last month:
    • Site-wide: 26,966 out of 64,753

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

genetics more details view paper
  • Downloaded 1,866 times
  • Download rankings, all-time:
    • Site-wide: 2,601 out of 64,753
    • In genetics: 240 out of 3,675
  • Year to date:
    • Site-wide: 27,914 out of 64,753
  • Since beginning of last month:
    • Site-wide: 31,338 out of 64,753

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,850 times
  • Download rankings, all-time:
    • Site-wide: 2,637 out of 64,753
    • In genomics: 537 out of 4,433
  • Year to date:
    • Site-wide: 38,452 out of 64,753
  • Since beginning of last month:
    • Site-wide: 37,720 out of 64,753

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

genetics more details view paper
  • Downloaded 1,429 times
  • Download rankings, all-time:
    • Site-wide: 4,095 out of 64,753
    • In genetics: 355 out of 3,675
  • Year to date:
    • Site-wide: 38,964 out of 64,753
  • Since beginning of last month:
    • Site-wide: 43,534 out of 64,753

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

genetics more details view paper
  • Downloaded 1,298 times
  • Download rankings, all-time:
    • Site-wide: 4,783 out of 64,753
    • In genetics: 391 out of 3,675
  • Year to date:
    • Site-wide: 43,254 out of 64,753
  • Since beginning of last month:
    • Site-wide: None out of 64,753

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

genomics more details view paper
  • Downloaded 1,104 times
  • Download rankings, all-time:
    • Site-wide: 6,297 out of 64,753
    • In genomics: 1,040 out of 4,433
  • Year to date:
    • Site-wide: 18,133 out of 64,753
  • Since beginning of last month:
    • Site-wide: 21,998 out of 64,753

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

genomics more details view paper
  • Downloaded 1,042 times
  • Download rankings, all-time:
    • Site-wide: 6,894 out of 64,753
    • In genomics: 1,114 out of 4,433
  • Year to date:
    • Site-wide: 50,934 out of 64,753
  • Since beginning of last month:
    • Site-wide: 42,515 out of 64,753

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

genomics more details view paper
  • Downloaded 1,034 times
  • Download rankings, all-time:
    • Site-wide: 6,984 out of 64,753
    • In genomics: 1,130 out of 4,433
  • Year to date:
    • Site-wide: 1,582 out of 64,753
  • Since beginning of last month:
    • Site-wide: 5,970 out of 64,753

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

genomics more details view paper
  • Downloaded 983 times
  • Download rankings, all-time:
    • Site-wide: 7,555 out of 64,753
    • In genomics: 1,206 out of 4,433
  • Year to date:
    • Site-wide: 49,137 out of 64,753
  • Since beginning of last month:
    • Site-wide: 42,550 out of 64,753

Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 947 times
  • Download rankings, all-time:
    • Site-wide: 8,029 out of 64,753
    • In genetics: 620 out of 3,675
  • Year to date:
    • Site-wide: 38,686 out of 64,753
  • Since beginning of last month:
    • Site-wide: 37,710 out of 64,753

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 587 times
  • Download rankings, all-time:
    • Site-wide: 16,253 out of 64,753
    • In genomics: 2,041 out of 4,433
  • Year to date:
    • Site-wide: 28,743 out of 64,753
  • Since beginning of last month:
    • Site-wide: 47,007 out of 64,753

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