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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 52,871 bioRxiv papers from 244,990 authors.

Author: Daniel G. MacArthur

  • Most recently observed institution: Massachusetts General Hospital, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA

Rankings

  • All-time downloads: 81,045 (rank: 73 out of 244,991)
  • Categories:
    • genetics: 14,921 (rank: 495 out of 23,704)
    • genomics: 66,124 (rank: 94 out of 28,263)

Downloads per author, site-wide

Preprints

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

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    • In genomics: 7 out of 3,774
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    • Site-wide: 5,856 out of 52,871

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

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  • Downloaded 8,432 times
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    • In genomics: 41 out of 3,774
  • Year to date:
    • Site-wide: 10 out of 52,871
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    • Site-wide: 56 out of 52,871

New mutations, old statistical challenges

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  • Downloaded 6,701 times
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    • In genetics: 19 out of 3,083
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    • Site-wide: 12,196 out of 52,871
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    • Site-wide: 21,125 out of 52,871

An open resource of structural variation for medical and population genetics

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  • Downloaded 5,153 times
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    • In genomics: 84 out of 3,774
  • Year to date:
    • Site-wide: 30 out of 52,871
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    • Site-wide: 133 out of 52,871

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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  • Downloaded 5,009 times
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    • In genomics: 90 out of 3,774
  • Year to date:
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    • Site-wide: 13,794 out of 52,871

Regional missense constraint improves variant deleteriousness prediction

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  • Downloaded 4,601 times
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    • In genomics: 106 out of 3,774
  • Year to date:
    • Site-wide: 993 out of 52,871
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    • Site-wide: 1,397 out of 52,871

Local genetic effects on gene expression across 44 human tissues

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  • Downloaded 4,091 times
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    • In genomics: 133 out of 3,774
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    • Site-wide: 21,159 out of 52,871

Scaling accurate genetic variant discovery to tens of thousands of samples

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  • Downloaded 3,647 times
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    • In genomics: 164 out of 3,774
  • Year to date:
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    • Site-wide: 1,660 out of 52,871

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

genomics more details view paper
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    • In genomics: 271 out of 3,774
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    • Site-wide: 99 out of 52,871
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    • Site-wide: 892 out of 52,871

Human knockouts in a cohort with a high rate of consanguinity

genomics more details view paper
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    • In genomics: 341 out of 3,774
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  • Since beginning of last month:
    • Site-wide: 29,071 out of 52,871

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

genetics more details view paper
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    • In genetics: 184 out of 3,083
  • Year to date:
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    • Site-wide: 46,509 out of 52,871

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

genetics more details view paper
  • Downloaded 1,833 times
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    • In genetics: 210 out of 3,083
  • Year to date:
    • Site-wide: 39,542 out of 52,871
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    • Site-wide: 37,646 out of 52,871

Landscape of X chromosome inactivation across human tissues

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  • Downloaded 1,802 times
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    • In genomics: 472 out of 3,774
  • Year to date:
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    • Site-wide: 25,539 out of 52,871

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 1,670 times
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    • In genomics: 520 out of 3,774
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    • Site-wide: 1,421 out of 52,871

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
  • Downloaded 1,632 times
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    • In genomics: 539 out of 3,774
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    • Site-wide: 248 out of 52,871
  • Since beginning of last month:
    • Site-wide: 1,786 out of 52,871

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

genetics more details view paper
  • Downloaded 1,386 times
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    • Site-wide: 3,405 out of 52,871
    • In genetics: 315 out of 3,083
  • Year to date:
    • Site-wide: 28,688 out of 52,871
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    • Site-wide: 30,734 out of 52,871

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

genetics more details view paper
  • Downloaded 1,258 times
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    • In genetics: 349 out of 3,083
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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
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Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
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    • In genomics: 973 out of 3,774
  • Year to date:
    • Site-wide: 40,328 out of 52,871
  • Since beginning of last month:
    • Site-wide: 39,096 out of 52,871

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

genomics more details view paper
  • Downloaded 988 times
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    • In genomics: 986 out of 3,774
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  • Since beginning of last month:
    • Site-wide: 13,842 out of 52,871

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease

genomics more details view paper
  • Downloaded 973 times
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    • In genomics: 1,005 out of 3,774
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    • Site-wide: 690 out of 52,871
  • Since beginning of last month:
    • Site-wide: 3,404 out of 52,871

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

genomics more details view paper
  • Downloaded 952 times
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    • In genomics: 1,035 out of 3,774
  • Year to date:
    • Site-wide: 35,243 out of 52,871
  • Since beginning of last month:
    • Site-wide: 40,157 out of 52,871

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 876 times
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    • In genetics: 569 out of 3,083
  • Year to date:
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  • Since beginning of last month:
    • Site-wide: 16,635 out of 52,871

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

genetics more details view paper
  • Downloaded 876 times
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    • In genetics: 568 out of 3,083
  • Year to date:
    • Site-wide: 22,452 out of 52,871
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    • Site-wide: 20,590 out of 52,871

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

genomics more details view paper
  • Downloaded 810 times
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    • In genomics: 1,248 out of 3,774
  • Year to date:
    • Site-wide: 983 out of 52,871
  • Since beginning of last month:
    • Site-wide: 6,522 out of 52,871

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

genomics more details view paper
  • Downloaded 609 times
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    • Site-wide: 11,982 out of 52,871
    • In genomics: 1,650 out of 3,774
  • Year to date:
    • Site-wide: 1,596 out of 52,871
  • Since beginning of last month:
    • Site-wide: 188 out of 52,871

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 531 times
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    • In genomics: 1,859 out of 3,774
  • Year to date:
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  • Since beginning of last month:
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