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Author: Daniel G MacArthur

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

Rankings

  • All-time downloads: 116,731 (rank: 256 out of 427,163)
  • Categories:
    • genetics: 6,908 (rank: 2,751 out of 38,051)
    • genomics: 109,823 (rank: 19 out of 44,673)

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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    • In genomics: 9 out of 6,270
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    • Site-wide: 151 out of 101,137
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Analysis of protein-coding genetic variation in 60,706 humans

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    • In genomics: 10 out of 6,270
  • Year to date:
    • Site-wide: 18,779 out of 101,137
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Quantitative analysis of population-scale family trees using millions of relatives

genomics more details view paper
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    • In genomics: 13 out of 6,270
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    • Site-wide: 4,545 out of 101,137
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    • Site-wide: 8,193 out of 101,137

An open resource of structural variation for medical and population genetics

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    • In genomics: 49 out of 6,270
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Scaling accurate genetic variant discovery to tens of thousands of samples

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    • In genomics: 109 out of 6,270
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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    • In genomics: 151 out of 6,270
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Evaluating potential drug targets through human loss-of-function genetic variation

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    • In genomics: 219 out of 6,270
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Local genetic effects on gene expression across 44 human tissues

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    • In genomics: 227 out of 6,270
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Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
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    • In genomics: 314 out of 6,270
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

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    • In genomics: 398 out of 6,270
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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    • In genetics: 303 out of 5,033
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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
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    • Site-wide: 4,753 out of 101,137
    • In genomics: 773 out of 6,270
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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

genetics more details view paper
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    • Site-wide: 5,672 out of 101,137
    • In genetics: 397 out of 5,033
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    • Site-wide: 76,940 out of 101,137
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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    • In genetics: 524 out of 5,033
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    • Site-wide: 72,157 out of 101,137
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    • Site-wide: 79,966 out of 101,137

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

genomics more details view paper
  • Downloaded 1,338 times
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    • Site-wide: 8,318 out of 101,137
    • In genomics: 1,248 out of 6,270
  • Year to date:
    • Site-wide: 27,050 out of 101,137
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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,294 times
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    • Site-wide: 8,821 out of 101,137
    • In genomics: 1,300 out of 6,270
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  • Since beginning of last month:
    • Site-wide: 90,865 out of 101,137

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

genomics more details view paper
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    • Site-wide: 11,229 out of 101,137
    • In genomics: 1,566 out of 6,270
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    • Site-wide: 83,818 out of 101,137
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    • Site-wide: 90,609 out of 101,137

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
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    • In genetics: 775 out of 5,033
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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
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    • In genomics: 1,613 out of 6,270
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  • Since beginning of last month:
    • Site-wide: 28,707 out of 101,137

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

genetics more details view paper
  • Downloaded 739 times
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    • Site-wide: 21,436 out of 101,137
    • In genetics: 1,327 out of 5,033
  • Year to date:
    • Site-wide: 42,290 out of 101,137
  • Since beginning of last month:
    • Site-wide: 61,854 out of 101,137

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 664 times
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    • In genomics: 2,741 out of 6,270
  • Year to date:
    • Site-wide: 85,926 out of 101,137
  • Since beginning of last month:
    • Site-wide: 63,045 out of 101,137

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