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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 73,741 bioRxiv papers from 320,833 authors.

Author: Daniel G. MacArthur

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

Rankings

  • All-time downloads: 114,303 (rank: 81 out of 320,714)
  • Categories:
    • genetics: 13,872 (rank: 713 out of 31,419)
    • genomics: 100,431 (rank: 15 out of 35,734)

Downloads per author, site-wide

Preprints

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

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  • Downloaded 21,596 times
  • Download rankings, all-time:
    • Site-wide: 35 out of 73,697
    • In genomics: 7 out of 4,889
  • Year to date:
    • Site-wide: 20,430 out of 73,697
  • Since beginning of last month:
    • Site-wide: 20,430 out of 73,697

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

genomics more details view paper
  • Downloaded 18,673 times
  • Download rankings, all-time:
    • Site-wide: 42 out of 73,697
    • In genomics: 9 out of 4,889
  • Year to date:
    • Site-wide: 7,606 out of 73,697
  • Since beginning of last month:
    • Site-wide: 7,606 out of 73,697

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 16,691 times
  • Download rankings, all-time:
    • Site-wide: 49 out of 73,697
    • In genomics: 10 out of 4,889
  • Year to date:
    • Site-wide: 89 out of 73,697
  • Since beginning of last month:
    • Site-wide: 89 out of 73,697

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 73,697
    • In genomics: 51 out of 4,889
  • Year to date:
    • Site-wide: 342 out of 73,697
  • Since beginning of last month:
    • Site-wide: 342 out of 73,697

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,901 times
  • Download rankings, all-time:
    • Site-wide: 289 out of 73,697
    • In genetics: 30 out of 4,041
  • Year to date:
    • Site-wide: 16,596 out of 73,697
  • Since beginning of last month:
    • Site-wide: 16,596 out of 73,697

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,851 times
  • Download rankings, all-time:
    • Site-wide: 385 out of 73,697
    • In genomics: 94 out of 4,889
  • Year to date:
    • Site-wide: 838 out of 73,697
  • Since beginning of last month:
    • Site-wide: 838 out of 73,697

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,173 times
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    • Site-wide: 469 out of 73,697
    • In genomics: 117 out of 4,889
  • Year to date:
    • Site-wide: 22,873 out of 73,697
  • Since beginning of last month:
    • Site-wide: 22,873 out of 73,697

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,233 times
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    • Site-wide: 698 out of 73,697
    • In genomics: 168 out of 4,889
  • Year to date:
    • Site-wide: 26,187 out of 73,697
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    • Site-wide: 26,187 out of 73,697

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

genomics more details view paper
  • Downloaded 3,767 times
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    • Site-wide: 873 out of 73,697
    • In genomics: 215 out of 4,889
  • Year to date:
    • Site-wide: 2,776 out of 73,697
  • Since beginning of last month:
    • Site-wide: 2,776 out of 73,697

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: 1,733 out of 73,697
    • In genomics: 375 out of 4,889
  • Year to date:
    • Site-wide: 4,623 out of 73,697
  • Since beginning of last month:
    • Site-wide: 4,623 out of 73,697

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: 1,826 out of 73,697
    • In genomics: 391 out of 4,889
  • Year to date:
    • Site-wide: 4,930 out of 73,697
  • Since beginning of last month:
    • Site-wide: 4,930 out of 73,697

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

genetics more details view paper
  • Downloaded 1,909 times
  • Download rankings, all-time:
    • Site-wide: 2,949 out of 73,697
    • In genetics: 255 out of 4,041
  • Year to date:
    • Site-wide: 30,743 out of 73,697
  • Since beginning of last month:
    • Site-wide: 30,743 out of 73,697

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,876 times
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    • Site-wide: 3,041 out of 73,697
    • In genomics: 597 out of 4,889
  • Year to date:
    • Site-wide: 65,454 out of 73,697
  • Since beginning of last month:
    • Site-wide: 65,454 out of 73,697

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

genetics more details view paper
  • Downloaded 1,606 times
  • Download rankings, all-time:
    • Site-wide: 3,968 out of 73,697
    • In genetics: 328 out of 4,041
  • Year to date:
    • Site-wide: 53,625 out of 73,697
  • Since beginning of last month:
    • Site-wide: 53,625 out of 73,697

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: 4,229 out of 73,697
    • In genomics: 757 out of 4,889
  • Year to date:
    • Site-wide: 6,142 out of 73,697
  • Since beginning of last month:
    • Site-wide: 6,142 out of 73,697

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
  • Download rankings, all-time:
    • Site-wide: 4,735 out of 73,697
    • In genetics: 389 out of 4,041
  • Year to date:
    • Site-wide: 64,426 out of 73,697
  • Since beginning of last month:
    • Site-wide: 64,426 out of 73,697

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

genomics more details view paper
  • Downloaded 1,177 times
  • Download rankings, all-time:
    • Site-wide: 6,677 out of 73,697
    • In genomics: 1,079 out of 4,889
  • Year to date:
    • Site-wide: 12,602 out of 73,697
  • Since beginning of last month:
    • Site-wide: 12,602 out of 73,697

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: 6,703 out of 73,697
    • In genomics: 1,082 out of 4,889
  • Year to date:
    • Site-wide: 10,019 out of 73,697
  • Since beginning of last month:
    • Site-wide: 10,019 out of 73,697

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: 6,867 out of 73,697
    • In genomics: 1,102 out of 4,889
  • Year to date:
    • Site-wide: 31,563 out of 73,697
  • Since beginning of last month:
    • Site-wide: 31,563 out of 73,697

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

genomics more details view paper
  • Downloaded 1,066 times
  • Download rankings, all-time:
    • Site-wide: 7,871 out of 73,697
    • In genomics: 1,239 out of 4,889
  • Year to date:
    • Site-wide: 45,505 out of 73,697
  • Since beginning of last month:
    • Site-wide: 45,505 out of 73,697

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

genetics more details view paper
  • Downloaded 1,016 times
  • Download rankings, all-time:
    • Site-wide: 8,509 out of 73,697
    • In genetics: 628 out of 4,041
  • Year to date:
    • Site-wide: 37,670 out of 73,697
  • Since beginning of last month:
    • Site-wide: 37,670 out of 73,697

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: 8,690 out of 73,697
    • In genomics: 1,345 out of 4,889
  • Year to date:
    • Site-wide: 71,380 out of 73,697
  • Since beginning of last month:
    • Site-wide: 71,380 out of 73,697

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 993 times
  • Download rankings, all-time:
    • Site-wide: 8,840 out of 73,697
    • In genetics: 658 out of 4,041
  • Year to date:
    • Site-wide: 26,481 out of 73,697
  • Since beginning of last month:
    • Site-wide: 26,481 out of 73,697

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

genomics more details view paper
  • Downloaded 967 times
  • Download rankings, all-time:
    • Site-wide: 9,272 out of 73,697
    • In genomics: 1,406 out of 4,889
  • Year to date:
    • Site-wide: 25,900 out of 73,697
  • Since beginning of last month:
    • Site-wide: 25,900 out of 73,697

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: 18,377 out of 73,697
    • In genomics: 2,215 out of 4,889
  • Year to date:
    • Site-wide: 52,419 out of 73,697
  • Since beginning of last month:
    • Site-wide: 52,419 out of 73,697

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