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Author: Daniel G MacArthur

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

Rankings

  • All-time downloads: 133,374 (rank: 1,272 )
  • Categories:
    • genetics: 7,717 (rank: 3,208 )
    • genomics: 123,882 (rank: 37 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,001
  • Since beginning of last month:
    • Site-wide: 2,826

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

genomics more details view paper
  • Downloaded 22,453 times
  • Download rankings, all-time:
    • Site-wide: 497
    • In genomics: 16
  • Year to date:
    • Site-wide: 40,172
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 20,556 times
  • Download rankings, all-time:
    • Site-wide: 557
    • In genomics: 20
  • Year to date:
    • Site-wide: 18,764
  • Since beginning of last month:
    • Site-wide: 16,061

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 12,395 times
  • Download rankings, all-time:
    • Site-wide: 1,039
    • In genomics: 65
  • Year to date:
    • Site-wide: 840
  • Since beginning of last month:
    • Site-wide: 352

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
  • Download rankings, all-time:
    • Site-wide: 1,117
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,190
  • Since beginning of last month:
    • Site-wide: 18,555

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,800 times
  • Download rankings, all-time:
    • Site-wide: 2,786
    • In genomics: 218
  • Year to date:
    • Site-wide: 93,402
  • Since beginning of last month:
    • Site-wide: 41,199

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

genomics more details view paper
  • Downloaded 5,549 times
  • Download rankings, all-time:
    • Site-wide: 2,971
    • In genomics: 249
  • Year to date:
    • Site-wide: 32,724
  • Since beginning of last month:
    • Site-wide: 58,060

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,687 times
  • Download rankings, all-time:
    • Site-wide: 3,734
    • In genomics: 329
  • Year to date:
    • Site-wide: 90,984
  • Since beginning of last month:
    • Site-wide: 28,536

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,126 times
  • Download rankings, all-time:
    • Site-wide: 4,460
    • In genomics: 399
  • Year to date:
    • Site-wide: 80,668
  • Since beginning of last month:
    • Site-wide: 68,116

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

genomics more details view paper
  • Downloaded 3,370 times
  • Download rankings, all-time:
    • Site-wide: 6,010
    • In genomics: 550
  • Year to date:
    • Site-wide: 89,643
  • Since beginning of last month:
    • Site-wide: 24,764

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 2,208 times
  • Download rankings, all-time:
    • Site-wide: 11,220
    • In genomics: 1,009
  • Year to date:
    • Site-wide: 88,630
  • Since beginning of last month:
    • Site-wide: 100,535

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

genetics more details view paper
  • Downloaded 2,160 times
  • Download rankings, all-time:
    • Site-wide: 11,618
    • In genetics: 424
  • Year to date:
    • Site-wide: 165,434
  • Since beginning of last month:
    • Site-wide: 123,262

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

genetics more details view paper
  • Downloaded 1,845 times
  • Download rankings, all-time:
    • Site-wide: 14,726
    • In genetics: 572
  • Year to date:
    • Site-wide: 154,684
  • Since beginning of last month:
    • Site-wide: 44,009

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

genetics more details view paper
  • Downloaded 1,600 times
  • Download rankings, all-time:
    • Site-wide: 18,380
    • In genetics: 731
  • Year to date:
    • Site-wide: 155,223
  • Since beginning of last month:
    • Site-wide: 28,634

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

genomics more details view paper
  • Downloaded 1,587 times
  • Download rankings, all-time:
    • Site-wide: 18,587
    • In genomics: 1,643
  • Year to date:
    • Site-wide: 133,317
  • Since beginning of last month:
    • Site-wide: 41,257

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

genomics more details view paper
  • Downloaded 1,428 times
  • Download rankings, all-time:
    • Site-wide: 21,979
    • In genomics: 1,863
  • Year to date:
    • Site-wide: 197,668
  • Since beginning of last month:
    • Site-wide: 99,817

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 1,386 times
  • Download rankings, all-time:
    • Site-wide: 23,081
    • In genomics: 1,999
  • Year to date:
    • Site-wide: 89,716
  • Since beginning of last month:
    • Site-wide: 14,650

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,261 times
  • Download rankings, all-time:
    • Site-wide: 26,845
    • In genetics: 1,057
  • Year to date:
    • Site-wide: 126,537
  • Since beginning of last month:
    • Site-wide: 74,144

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

genomics more details view paper
  • Downloaded 1,233 times
  • Download rankings, all-time:
    • Site-wide: 27,791
    • In genomics: 2,321
  • Year to date:
    • Site-wide: 174,842
  • Since beginning of last month:
    • Site-wide: 41,185

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

genetics more details view paper
  • Downloaded 988 times
  • Download rankings, all-time:
    • Site-wide: 39,141
    • In genetics: 1,562
  • Year to date:
    • Site-wide: 104,253
  • Since beginning of last month:
    • Site-wide: 75,229

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 802 times
  • Download rankings, all-time:
    • Site-wide: 53,767
    • In genomics: 3,783
  • Year to date:
    • Site-wide: 196,069
  • Since beginning of last month:
    • Site-wide: 124,042

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