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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 67,354 bioRxiv papers from 296,792 authors.

Author: Konrad J. Karczewski

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

Rankings

  • All-time downloads: 55,343 (rank: 235 out of 296,792)
  • Categories:
    • genetics: 5,569 (rank: 2,624 out of 29,547)
    • genomics: 49,774 (rank: 109 out of 33,725)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,535 times
  • Download rankings, all-time:
    • Site-wide: 27 out of 67,354
    • In genomics: 7 out of 4,574
  • Year to date:
    • Site-wide: 3,471 out of 67,354
  • Since beginning of last month:
    • Site-wide: 9,591 out of 67,354

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 7,898 times
  • Download rankings, all-time:
    • Site-wide: 188 out of 67,354
    • In genomics: 55 out of 4,574
  • Year to date:
    • Site-wide: 44 out of 67,354
  • Since beginning of last month:
    • Site-wide: 198 out of 67,354

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,406 times
  • Download rankings, all-time:
    • Site-wide: 383 out of 67,354
    • In genomics: 96 out of 4,574
  • Year to date:
    • Site-wide: 829 out of 67,354
  • Since beginning of last month:
    • Site-wide: 1,562 out of 67,354

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,126 times
  • Download rankings, all-time:
    • Site-wide: 413 out of 67,354
    • In genomics: 107 out of 4,574
  • Year to date:
    • Site-wide: 13,699 out of 67,354
  • Since beginning of last month:
    • Site-wide: 21,696 out of 67,354

Efficient genotype compression and analysis of large genetic variation datasets

genomics more details view paper
  • Downloaded 3,135 times
  • Download rankings, all-time:
    • Site-wide: 1,092 out of 67,354
    • In genomics: 260 out of 4,574
  • Year to date:
    • Site-wide: 24,733 out of 67,354
  • Since beginning of last month:
    • Site-wide: 21,707 out of 67,354

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

genetics more details view paper
  • Downloaded 1,869 times
  • Download rankings, all-time:
    • Site-wide: 2,732 out of 67,354
    • In genetics: 249 out of 3,786
  • Year to date:
    • Site-wide: 31,266 out of 67,354
  • Since beginning of last month:
    • Site-wide: 57,680 out of 67,354

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,858 times
  • Download rankings, all-time:
    • Site-wide: 2,760 out of 67,354
    • In genomics: 551 out of 4,574
  • Year to date:
    • Site-wide: 40,866 out of 67,354
  • Since beginning of last month:
    • Site-wide: 48,346 out of 67,354

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

genetics more details view paper
  • Downloaded 1,433 times
  • Download rankings, all-time:
    • Site-wide: 4,296 out of 67,354
    • In genetics: 364 out of 3,786
  • Year to date:
    • Site-wide: 42,683 out of 67,354
  • Since beginning of last month:
    • Site-wide: 56,281 out of 67,354

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

genetics more details view paper
  • Downloaded 1,312 times
  • Download rankings, all-time:
    • Site-wide: 4,968 out of 67,354
    • In genetics: 402 out of 3,786
  • Year to date:
    • Site-wide: 43,708 out of 67,354
  • Since beginning of last month:
    • Site-wide: 58,132 out of 67,354

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

genomics more details view paper
  • Downloaded 1,124 times
  • Download rankings, all-time:
    • Site-wide: 6,435 out of 67,354
    • In genomics: 1,057 out of 4,574
  • Year to date:
    • Site-wide: 18,817 out of 67,354
  • Since beginning of last month:
    • Site-wide: 21,168 out of 67,354

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

genomics more details view paper
  • Downloaded 1,058 times
  • Download rankings, all-time:
    • Site-wide: 7,108 out of 67,354
    • In genomics: 1,141 out of 4,574
  • Year to date:
    • Site-wide: 1,782 out of 67,354
  • Since beginning of last month:
    • Site-wide: 16,092 out of 67,354

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

genomics more details view paper
  • Downloaded 1,046 times
  • Download rankings, all-time:
    • Site-wide: 7,241 out of 67,354
    • In genomics: 1,164 out of 4,574
  • Year to date:
    • Site-wide: 54,912 out of 67,354
  • Since beginning of last month:
    • Site-wide: 47,754 out of 67,354

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

genomics more details view paper
  • Downloaded 994 times
  • Download rankings, all-time:
    • Site-wide: 7,853 out of 67,354
    • In genomics: 1,245 out of 4,574
  • Year to date:
    • Site-wide: 50,833 out of 67,354
  • Since beginning of last month:
    • Site-wide: 38,894 out of 67,354

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

genetics more details view paper
  • Downloaded 955 times
  • Download rankings, all-time:
    • Site-wide: 8,384 out of 67,354
    • In genetics: 636 out of 3,786
  • Year to date:
    • Site-wide: 41,136 out of 67,354
  • Since beginning of last month:
    • Site-wide: 48,300 out of 67,354

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 594 times
  • Download rankings, all-time:
    • Site-wide: 16,932 out of 67,354
    • In genomics: 2,092 out of 4,574
  • Year to date:
    • Site-wide: 31,319 out of 67,354
  • Since beginning of last month:
    • Site-wide: 52,091 out of 67,354

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