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Author: Daniel G MacArthur

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

Rankings

  • All-time downloads: 127,828 (rank: 1,135 )
  • Categories:
    • genetics: 7,546 (rank: 3,004 )
    • genomics: 120,282 (rank: 34 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 382
    • In genomics: 11
  • Year to date:
    • Site-wide: 10,327
  • Since beginning of last month:
    • Site-wide: 5,165

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

genomics more details view paper
  • Downloaded 22,257 times
  • Download rankings, all-time:
    • Site-wide: 434
    • In genomics: 13
  • Year to date:
    • Site-wide: 11,894
  • Since beginning of last month:
    • Site-wide: 28,359

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

genomics more details view paper
  • Downloaded 20,201 times
  • Download rankings, all-time:
    • Site-wide: 481
    • In genomics: 17
  • Year to date:
    • Site-wide: 62,745
  • Since beginning of last month:
    • Site-wide: 37,948

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,374 times
  • Download rankings, all-time:
    • Site-wide: 991
    • In genomics: 61
  • Year to date:
    • Site-wide: 11,942
  • Since beginning of last month:
    • Site-wide: 15,545

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 9,949 times
  • Download rankings, all-time:
    • Site-wide: 1,160
    • In genomics: 75
  • Year to date:
    • Site-wide: 3,613
  • Since beginning of last month:
    • Site-wide: 2,074

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,701 times
  • Download rankings, all-time:
    • Site-wide: 2,366
    • In genomics: 194
  • Year to date:
    • Site-wide: 78,506
  • Since beginning of last month:
    • Site-wide: 33,751

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

genomics more details view paper
  • Downloaded 5,304 times
  • Download rankings, all-time:
    • Site-wide: 2,611
    • In genomics: 225
  • Year to date:
    • Site-wide: 49,714
  • Since beginning of last month:
    • Site-wide: 61,227

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,588 times
  • Download rankings, all-time:
    • Site-wide: 3,182
    • In genomics: 295
  • Year to date:
    • Site-wide: 45,960
  • Since beginning of last month:
    • Site-wide: 47,371

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,007 times
  • Download rankings, all-time:
    • Site-wide: 3,826
    • In genomics: 370
  • Year to date:
    • Site-wide: 114,347
  • Since beginning of last month:
    • Site-wide: 28,328

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

genomics more details view paper
  • Downloaded 3,266 times
  • Download rankings, all-time:
    • Site-wide: 5,113
    • In genomics: 490
  • Year to date:
    • Site-wide: 78,600
  • Since beginning of last month:
    • Site-wide: 103,554

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

genetics more details view paper
  • Downloaded 2,110 times
  • Download rankings, all-time:
    • Site-wide: 9,609
    • In genetics: 386
  • Year to date:
    • Site-wide: 107,881
  • Since beginning of last month:
    • Site-wide: 103,878

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 2,103 times
  • Download rankings, all-time:
    • Site-wide: 9,658
    • In genomics: 946
  • Year to date:
    • Site-wide: 77,652
  • Since beginning of last month:
    • Site-wide: 40,760

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

genetics more details view paper
  • Downloaded 1,795 times
  • Download rankings, all-time:
    • Site-wide: 12,264
    • In genetics: 509
  • Year to date:
    • Site-wide: 46,402
  • Since beginning of last month:
    • Site-wide: 147,184

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

genetics more details view paper
  • Downloaded 1,545 times
  • Download rankings, all-time:
    • Site-wide: 15,396
    • In genetics: 666
  • Year to date:
    • Site-wide: 107,796
  • Since beginning of last month:
    • Site-wide: 69,139

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

genomics more details view paper
  • Downloaded 1,522 times
  • Download rankings, all-time:
    • Site-wide: 15,756
    • In genomics: 1,503
  • Year to date:
    • Site-wide: 79,845
  • Since beginning of last month:
    • Site-wide: 151,778

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

genomics more details view paper
  • Downloaded 1,392 times
  • Download rankings, all-time:
    • Site-wide: 18,050
    • In genomics: 1,695
  • Year to date:
    • Site-wide: 141,952
  • Since beginning of last month:
    • Site-wide: 121,769

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 1,289 times
  • Download rankings, all-time:
    • Site-wide: 20,251
    • In genomics: 1,852
  • Year to date:
    • Site-wide: 30,711
  • Since beginning of last month:
    • Site-wide: 62,021

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,191 times
  • Download rankings, all-time:
    • Site-wide: 22,876
    • In genetics: 980
  • Year to date:
    • Site-wide: 82,187
  • Since beginning of last month:
    • Site-wide: 95,218

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

genomics more details view paper
  • Downloaded 1,188 times
  • Download rankings, all-time:
    • Site-wide: 22,954
    • In genomics: 2,085
  • Year to date:
    • Site-wide: 83,508
  • Since beginning of last month:
    • Site-wide: 122,208

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

genetics more details view paper
  • Downloaded 905 times
  • Download rankings, all-time:
    • Site-wide: 34,496
    • In genetics: 1,477
  • Year to date:
    • Site-wide: 37,871
  • Since beginning of last month:
    • Site-wide: 121,880

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 765 times
  • Download rankings, all-time:
    • Site-wide: 43,967
    • In genomics: 3,427
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 150,066

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