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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 67,221 bioRxiv papers from 295,976 authors.

Author: Daniel G. MacArthur

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

Rankings

  • All-time downloads: 115,815 (rank: 54 out of 295,921)
  • Categories:
    • genetics: 15,497 (rank: 591 out of 29,470)
    • genomics: 100,318 (rank: 10 out of 33,658)

Downloads per author, site-wide

Preprints

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

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    • In genomics: 7 out of 4,566
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    • Site-wide: 8,550 out of 67,221

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

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  • Downloaded 18,535 times
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    • In genomics: 9 out of 4,566
  • Year to date:
    • Site-wide: 2,184 out of 67,221
  • Since beginning of last month:
    • Site-wide: 4,808 out of 67,221

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 14,611 times
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    • In genomics: 15 out of 4,566
  • Year to date:
    • Site-wide: 10 out of 67,221
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    • Site-wide: 59 out of 67,221

An open resource of structural variation for medical and population genetics

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  • Downloaded 7,898 times
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    • Site-wide: 188 out of 67,221
    • In genomics: 55 out of 4,566
  • Year to date:
    • Site-wide: 44 out of 67,221
  • Since beginning of last month:
    • Site-wide: 183 out of 67,221

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,813 times
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    • In genetics: 28 out of 3,777
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    • Site-wide: 16,086 out of 67,221
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    • Site-wide: 34,011 out of 67,221

Regional missense constraint improves variant deleteriousness prediction

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  • Downloaded 5,406 times
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    • In genomics: 96 out of 4,566
  • Year to date:
    • Site-wide: 815 out of 67,221
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    • Site-wide: 1,385 out of 67,221

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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    • In genomics: 107 out of 4,566
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    • Site-wide: 19,000 out of 67,221

Scaling accurate genetic variant discovery to tens of thousands of samples

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  • Downloaded 4,368 times
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    • In genomics: 150 out of 4,566
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    • Site-wide: 1,768 out of 67,221

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,189 times
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    • In genomics: 161 out of 4,566
  • Year to date:
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    • Site-wide: 18,251 out of 67,221

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

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    • In genomics: 221 out of 4,566
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    • Site-wide: 176 out of 67,221
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    • Site-wide: 1,179 out of 67,221

Transcript expression-aware annotation improves rare variant discovery and interpretation

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    • In genomics: 385 out of 4,566
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Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

genomics more details view paper
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    • In genomics: 407 out of 4,566
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    • Site-wide: 404 out of 67,221
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    • Site-wide: 1,887 out of 67,221

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

genetics more details view paper
  • Downloaded 1,877 times
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    • In genetics: 247 out of 3,777
  • Year to date:
    • Site-wide: 53,037 out of 67,221
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    • Site-wide: 47,983 out of 67,221

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,858 times
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    • In genomics: 550 out of 4,566
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  • Since beginning of last month:
    • Site-wide: 42,967 out of 67,221

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

genetics more details view paper
  • Downloaded 1,577 times
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    • Site-wide: 3,628 out of 67,221
    • In genetics: 314 out of 3,777
  • Year to date:
    • Site-wide: 35,555 out of 67,221
  • Since beginning of last month:
    • Site-wide: 58,970 out of 67,221

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
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    • Site-wide: 4,273 out of 67,221
    • In genetics: 362 out of 3,777
  • Year to date:
    • Site-wide: 42,222 out of 67,221
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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 1,395 times
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    • In genomics: 800 out of 4,566
  • Year to date:
    • Site-wide: 1,073 out of 67,221
  • Since beginning of last month:
    • Site-wide: 5,776 out of 67,221

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

genetics more details view paper
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    • In genetics: 402 out of 3,777
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    • Site-wide: 43,915 out of 67,221
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    • Site-wide: 62,064 out of 67,221

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

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  • Downloaded 1,196 times
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    • Site-wide: 5,759 out of 67,221
    • In genomics: 970 out of 4,566
  • Year to date:
    • Site-wide: 47,766 out of 67,221
  • Since beginning of last month:
    • Site-wide: 35,103 out of 67,221

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

genomics more details view paper
  • Downloaded 1,124 times
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    • In genomics: 1,051 out of 4,566
  • Year to date:
    • Site-wide: 18,566 out of 67,221
  • Since beginning of last month:
    • Site-wide: 18,548 out of 67,221

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

genomics more details view paper
  • Downloaded 1,102 times
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    • Site-wide: 6,618 out of 67,221
    • In genomics: 1,081 out of 4,566
  • Year to date:
    • Site-wide: 1,642 out of 67,221
  • Since beginning of last month:
    • Site-wide: 10,747 out of 67,221

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

genomics more details view paper
  • Downloaded 1,058 times
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    • In genomics: 1,138 out of 4,566
  • Year to date:
    • Site-wide: 1,754 out of 67,221
  • Since beginning of last month:
    • Site-wide: 14,245 out of 67,221

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

genomics more details view paper
  • Downloaded 1,046 times
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    • Site-wide: 7,201 out of 67,221
    • In genomics: 1,160 out of 4,566
  • Year to date:
    • Site-wide: 54,427 out of 67,221
  • Since beginning of last month:
    • Site-wide: 43,720 out of 67,221

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

genomics more details view paper
  • Downloaded 994 times
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    • Site-wide: 7,809 out of 67,221
    • In genomics: 1,239 out of 4,566
  • Year to date:
    • Site-wide: 50,082 out of 67,221
  • Since beginning of last month:
    • Site-wide: 34,812 out of 67,221

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

genetics more details view paper
  • Downloaded 983 times
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    • Site-wide: 7,947 out of 67,221
    • In genetics: 602 out of 3,777
  • Year to date:
    • Site-wide: 24,572 out of 67,221
  • Since beginning of last month:
    • Site-wide: 23,318 out of 67,221

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 956 times
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    • In genetics: 631 out of 3,777
  • Year to date:
    • Site-wide: 20,734 out of 67,221
  • Since beginning of last month:
    • Site-wide: 32,108 out of 67,221

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: 16,831 out of 67,221
    • In genomics: 2,088 out of 4,566
  • Year to date:
    • Site-wide: 30,996 out of 67,221
  • Since beginning of last month:
    • Site-wide: 46,767 out of 67,221

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

genetics more details view paper
  • Downloaded 548 times
  • Download rankings, all-time:
    • Site-wide: 18,753 out of 67,221
    • In genetics: 1,253 out of 3,777
  • Year to date:
    • Site-wide: 5,529 out of 67,221
  • Since beginning of last month:
    • Site-wide: 19,378 out of 67,221

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