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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: Daniel G. MacArthur

  • Most recently observed institution: Broad Institute of MIT and Harvard

Rankings

  • All-time downloads: 63,479 (rank: 97 out of 192,955)
  • Categories:
    • genetics: 13,216 (rank: 453 out of 20,528)
    • genomics: 50,263 (rank: 96 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.

Quantitative analysis of population-scale family trees using millions of relatives

genomics more details view paper
  • Downloaded 17,914 times
  • Download rankings, all-time:
    • Site-wide: 26 out of 42,796
    • In genomics: 6 out of 3,222
  • Year to date:
    • Site-wide: 385 out of 42,796
  • Since beginning of last month:
    • Site-wide: 385 out of 42,796

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,564 times
  • Download rankings, all-time:
    • Site-wide: 156 out of 42,796
    • In genetics: 19 out of 2,585
  • Year to date:
    • Site-wide: 10,529 out of 42,796
  • Since beginning of last month:
    • Site-wide: 10,529 out of 42,796

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 42,796
    • In genomics: 71 out of 3,222
  • Year to date:
    • Site-wide: 6,961 out of 42,796
  • Since beginning of last month:
    • Site-wide: 6,961 out of 42,796

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,030 times
  • Download rankings, all-time:
    • Site-wide: 382 out of 42,796
    • In genomics: 102 out of 3,222
  • Year to date:
    • Site-wide: 21,377 out of 42,796
  • Since beginning of last month:
    • Site-wide: 21,377 out of 42,796

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 42,796
    • In genomics: 103 out of 3,222
  • Year to date:
    • Site-wide: 6,197 out of 42,796
  • Since beginning of last month:
    • Site-wide: 6,197 out of 42,796

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 3,975 times
  • Download rankings, all-time:
    • Site-wide: 393 out of 42,796
    • In genomics: 105 out of 3,222
  • Year to date:
    • Site-wide: 1,027 out of 42,796
  • Since beginning of last month:
    • Site-wide: 1,027 out of 42,796

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 2,945 times
  • Download rankings, all-time:
    • Site-wide: 708 out of 42,796
    • In genomics: 183 out of 3,222
  • Year to date:
    • Site-wide: 1,157 out of 42,796
  • Since beginning of last month:
    • Site-wide: 1,157 out of 42,796

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 42,796
    • In genomics: 211 out of 3,222
  • Year to date:
    • Site-wide: 12 out of 42,796
  • Since beginning of last month:
    • Site-wide: 12 out of 42,796

Human knockouts in a cohort with a high rate of consanguinity

genomics more details view paper
  • Downloaded 2,255 times
  • Download rankings, all-time:
    • Site-wide: 1,170 out of 42,796
    • In genomics: 279 out of 3,222
  • Year to date:
    • Site-wide: 21,167 out of 42,796
  • Since beginning of last month:
    • Site-wide: 21,167 out of 42,796

A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

genetics more details view paper
  • Downloaded 1,968 times
  • Download rankings, all-time:
    • Site-wide: 1,467 out of 42,796
    • In genetics: 151 out of 2,585
  • Year to date:
    • Site-wide: 33,115 out of 42,796
  • Since beginning of last month:
    • Site-wide: 33,115 out of 42,796

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
  • Downloaded 1,793 times
  • Download rankings, all-time:
    • Site-wide: 1,727 out of 42,796
    • In genetics: 179 out of 2,585
  • Year to date:
    • Site-wide: 34,917 out of 42,796
  • Since beginning of last month:
    • Site-wide: 34,917 out of 42,796

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,747 times
  • Download rankings, all-time:
    • Site-wide: 1,794 out of 42,796
    • In genomics: 407 out of 3,222
  • Year to date:
    • Site-wide: 19,211 out of 42,796
  • Since beginning of last month:
    • Site-wide: 19,211 out of 42,796

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 42,796
    • In genomics: 486 out of 3,222
  • Year to date:
    • Site-wide: 23 out of 42,796
  • Since beginning of last month:
    • Site-wide: 23 out of 42,796

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

genetics more details view paper
  • Downloaded 1,338 times
  • Download rankings, all-time:
    • Site-wide: 2,773 out of 42,796
    • In genetics: 268 out of 2,585
  • Year to date:
    • Site-wide: 12,685 out of 42,796
  • Since beginning of last month:
    • Site-wide: 12,685 out of 42,796

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,100 times
  • Download rankings, all-time:
    • Site-wide: 3,784 out of 42,796
    • In genomics: 703 out of 3,222
  • Year to date:
    • Site-wide: 29,437 out of 42,796
  • Since beginning of last month:
    • Site-wide: 29,437 out of 42,796

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

genomics more details view paper
  • Downloaded 975 times
  • Download rankings, all-time:
    • Site-wide: 4,612 out of 42,796
    • In genomics: 830 out of 3,222
  • Year to date:
    • Site-wide: 21,719 out of 42,796
  • Since beginning of last month:
    • Site-wide: 21,719 out of 42,796

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

genomics more details view paper
  • Downloaded 907 times
  • Download rankings, all-time:
    • Site-wide: 5,162 out of 42,796
    • In genomics: 899 out of 3,222
  • Year to date:
    • Site-wide: 26,260 out of 42,796
  • Since beginning of last month:
    • Site-wide: 26,260 out of 42,796

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

genomics more details view paper
  • Downloaded 897 times
  • Download rankings, all-time:
    • Site-wide: 5,250 out of 42,796
    • In genomics: 909 out of 3,222
  • Year to date:
    • Site-wide: 12,007 out of 42,796
  • Since beginning of last month:
    • Site-wide: 12,007 out of 42,796

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
  • Downloaded 794 times
  • Download rankings, all-time:
    • Site-wide: 6,290 out of 42,796
    • In genetics: 521 out of 2,585
  • Year to date:
    • Site-wide: 18,502 out of 42,796
  • Since beginning of last month:
    • Site-wide: 18,502 out of 42,796

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 759 times
  • Download rankings, all-time:
    • Site-wide: 6,735 out of 42,796
    • In genetics: 556 out of 2,585
  • Year to date:
    • Site-wide: 8,890 out of 42,796
  • Since beginning of last month:
    • Site-wide: 8,890 out of 42,796

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 42,796
    • In genomics: 1,706 out of 3,222
  • Year to date:
    • Site-wide: 8,794 out of 42,796
  • Since beginning of last month:
    • Site-wide: 8,794 out of 42,796

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