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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 70,616 bioRxiv papers from 308,309 authors.

Author: Daniel G. MacArthur

  • Most recently observed institution: Department of Medicine, Harvard Medical School

Rankings

  • All-time downloads: 110,059 (rank: 56 out of 308,308)
  • Categories:
    • genetics: 13,770 (rank: 702 out of 30,558)
    • genomics: 96,289 (rank: 16 out of 34,863)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,567 times
  • Download rankings, all-time:
    • Site-wide: 30 out of 70,625
    • In genomics: 7 out of 4,714
  • Year to date:
    • Site-wide: 42,011 out of 70,625
  • Since beginning of last month:
    • Site-wide: 18,434 out of 70,625

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

genomics more details view paper
  • Downloaded 18,632 times
  • Download rankings, all-time:
    • Site-wide: 36 out of 70,625
    • In genomics: 9 out of 4,714
  • Year to date:
    • Site-wide: 3,590 out of 70,625
  • Since beginning of last month:
    • Site-wide: 3,415 out of 70,625

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 15,829 times
  • Download rankings, all-time:
    • Site-wide: 48 out of 70,625
    • In genomics: 11 out of 4,714
  • Year to date:
    • Site-wide: 64 out of 70,625
  • Since beginning of last month:
    • Site-wide: 48 out of 70,625

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 8,438 times
  • Download rankings, all-time:
    • Site-wide: 179 out of 70,625
    • In genomics: 52 out of 4,714
  • Year to date:
    • Site-wide: 283 out of 70,625
  • Since beginning of last month:
    • Site-wide: 226 out of 70,625

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,870 times
  • Download rankings, all-time:
    • Site-wide: 268 out of 70,625
    • In genetics: 29 out of 3,914
  • Year to date:
    • Site-wide: 22,329 out of 70,625
  • Since beginning of last month:
    • Site-wide: 7,635 out of 70,625

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,584 times
  • Download rankings, all-time:
    • Site-wide: 374 out of 70,625
    • In genomics: 93 out of 4,714
  • Year to date:
    • Site-wide: 2,527 out of 70,625
  • Since beginning of last month:
    • Site-wide: 1,582 out of 70,625

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,147 times
  • Download rankings, all-time:
    • Site-wide: 433 out of 70,625
    • In genomics: 113 out of 4,714
  • Year to date:
    • Site-wide: 44,851 out of 70,625
  • Since beginning of last month:
    • Site-wide: 26,778 out of 70,625

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,217 times
  • Download rankings, all-time:
    • Site-wide: 651 out of 70,625
    • In genomics: 166 out of 4,714
  • Year to date:
    • Site-wide: 15,987 out of 70,625
  • Since beginning of last month:
    • Site-wide: 17,993 out of 70,625

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

genomics more details view paper
  • Downloaded 3,665 times
  • Download rankings, all-time:
    • Site-wide: 854 out of 70,625
    • In genomics: 220 out of 4,714
  • Year to date:
    • Site-wide: 2,298 out of 70,625
  • Since beginning of last month:
    • Site-wide: 1,501 out of 70,625

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,511 times
  • Download rankings, all-time:
    • Site-wide: 1,717 out of 70,625
    • In genomics: 378 out of 4,714
  • Year to date:
    • Site-wide: 2,668 out of 70,625
  • Since beginning of last month:
    • Site-wide: 3,696 out of 70,625

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

genomics more details view paper
  • Downloaded 2,436 times
  • Download rankings, all-time:
    • Site-wide: 1,822 out of 70,625
    • In genomics: 401 out of 4,714
  • Year to date:
    • Site-wide: 5,573 out of 70,625
  • Since beginning of last month:
    • Site-wide: 3,418 out of 70,625

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

genetics more details view paper
  • Downloaded 1,889 times
  • Download rankings, all-time:
    • Site-wide: 2,821 out of 70,625
    • In genetics: 251 out of 3,914
  • Year to date:
    • Site-wide: 46,842 out of 70,625
  • Since beginning of last month:
    • Site-wide: 50,816 out of 70,625

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,870 times
  • Download rankings, all-time:
    • Site-wide: 2,878 out of 70,625
    • In genomics: 572 out of 4,714
  • Year to date:
    • Site-wide: 58,384 out of 70,625
  • Since beginning of last month:
    • Site-wide: 42,352 out of 70,625

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

genetics more details view paper
  • Downloaded 1,599 times
  • Download rankings, all-time:
    • Site-wide: 3,774 out of 70,625
    • In genetics: 320 out of 3,914
  • Year to date:
    • Site-wide: 37,964 out of 70,625
  • Since beginning of last month:
    • Site-wide: 34,268 out of 70,625

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 1,480 times
  • Download rankings, all-time:
    • Site-wide: 4,316 out of 70,625
    • In genomics: 780 out of 4,714
  • Year to date:
    • Site-wide: 7,710 out of 70,625
  • Since beginning of last month:
    • Site-wide: 4,692 out of 70,625

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

genetics more details view paper
  • Downloaded 1,441 times
  • Download rankings, all-time:
    • Site-wide: 4,522 out of 70,625
    • In genetics: 378 out of 3,914
  • Year to date:
    • Site-wide: 48,702 out of 70,625
  • Since beginning of last month:
    • Site-wide: 64,607 out of 70,625

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

genomics more details view paper
  • Downloaded 1,142 times
  • Download rankings, all-time:
    • Site-wide: 6,655 out of 70,625
    • In genomics: 1,074 out of 4,714
  • Year to date:
    • Site-wide: 29,818 out of 70,625
  • Since beginning of last month:
    • Site-wide: 27,740 out of 70,625

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

genomics more details view paper
  • Downloaded 1,123 times
  • Download rankings, all-time:
    • Site-wide: 6,855 out of 70,625
    • In genomics: 1,109 out of 4,714
  • Year to date:
    • Site-wide: 18,198 out of 70,625
  • Since beginning of last month:
    • Site-wide: 5,551 out of 70,625

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

genomics more details view paper
  • Downloaded 1,051 times
  • Download rankings, all-time:
    • Site-wide: 7,614 out of 70,625
    • In genomics: 1,211 out of 4,714
  • Year to date:
    • Site-wide: 67,172 out of 70,625
  • Since beginning of last month:
    • Site-wide: 66,246 out of 70,625

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

genetics more details view paper
  • Downloaded 1,000 times
  • Download rankings, all-time:
    • Site-wide: 8,268 out of 70,625
    • In genetics: 622 out of 3,914
  • Year to date:
    • Site-wide: 50,231 out of 70,625
  • Since beginning of last month:
    • Site-wide: 30,383 out of 70,625

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

genomics more details view paper
  • Downloaded 997 times
  • Download rankings, all-time:
    • Site-wide: 8,301 out of 70,625
    • In genomics: 1,291 out of 4,714
  • Year to date:
    • Site-wide: 68,716 out of 70,625
  • Since beginning of last month:
    • Site-wide: 58,804 out of 70,625

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 971 times
  • Download rankings, all-time:
    • Site-wide: 8,679 out of 70,625
    • In genetics: 655 out of 3,914
  • Year to date:
    • Site-wide: 41,313 out of 70,625
  • Since beginning of last month:
    • Site-wide: 44,458 out of 70,625

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 600 times
  • Download rankings, all-time:
    • Site-wide: 17,864 out of 70,625
    • In genomics: 2,170 out of 4,714
  • Year to date:
    • Site-wide: 60,188 out of 70,625
  • Since beginning of last month:
    • Site-wide: 66,843 out of 70,625

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