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Author: Daniel G. MacArthur

Rankings

  • All-time downloads: 77,473 (rank: 3,059 )
  • Categories:
    • bioinformatics: 6,250 (rank: 2,615 )
    • genetic and genomic medicine: 7,167 (rank: 385 )
    • genetics: 24,902 (rank: 435 )
    • genomics: 36,570 (rank: 366 )

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Preprints

Regional missense constraint improves variant deleteriousness prediction

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    • In genomics: 74
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    • Site-wide: 1,510
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    • Site-wide: 1,214

The GTEx Consortium atlas of genetic regulatory effects across human tissues

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    • Site-wide: 1,473
    • In genetics: 30
  • Year to date:
    • Site-wide: 14,376
  • Since beginning of last month:
    • Site-wide: 15,816

New mutations, old statistical challenges

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  • Downloaded 7,328 times
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    • Site-wide: 2,014
    • In genetics: 47
  • Year to date:
    • Site-wide: 130,663
  • Since beginning of last month:
    • Site-wide: 90,340

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 6,394 times
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    • Site-wide: 2,444
    • In genetic and genomic medicine: 12
  • Year to date:
    • Site-wide: 1,099
  • Since beginning of last month:
    • Site-wide: 9,320

Transcriptome variation in human tissues revealed by long-read sequencing

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  • Downloaded 5,652 times
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    • Site-wide: 2,887
    • In genomics: 271
  • Year to date:
    • Site-wide: 1,138
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Using high-resolution variant frequencies to empower clinical genome interpretation

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  • Downloaded 5,167 times
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    • Site-wide: 3,268
    • In genomics: 276
  • Year to date:
    • Site-wide: 111,852
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    • Site-wide: 62,606

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

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  • Downloaded 3,749 times
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    • Site-wide: 5,137
    • In genetics: 160
  • Year to date:
    • Site-wide: 102,249
  • Since beginning of last month:
    • Site-wide: 62,722

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

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  • Downloaded 3,637 times
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    • Site-wide: 5,350
    • In genomics: 481
  • Year to date:
    • Site-wide: 62,718
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    • Site-wide: 51,168

New synthetic-diploid benchmark for accurate variant calling evaluation

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  • Downloaded 3,375 times
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    • Site-wide: 5,989
    • In bioinformatics: 524
  • Year to date:
    • Site-wide: 91,950
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    • Site-wide: 55,945

STRetch: detecting and discovering pathogenic short tandem repeats expansions

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    • Site-wide: 7,195
    • In bioinformatics: 670
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    • Site-wide: 68,086
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    • Site-wide: 33,868

Landscape of X chromosome inactivation across human tissues

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  • Downloaded 2,174 times
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    • Site-wide: 11,487
    • In genomics: 1,031
  • Year to date:
    • Site-wide: 152,403
  • Since beginning of last month:
    • Site-wide: 89,900

A minimal role for synonymous variation in human disease

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  • Downloaded 1,905 times
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    • Site-wide: 14,027
    • In genetics: 709
  • Year to date:
    • Site-wide: 1,258
  • Since beginning of last month:
    • Site-wide: 4,528

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

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  • Downloaded 1,710 times
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    • Site-wide: 16,524
    • In genomics: 1,474
  • Year to date:
    • Site-wide: 123,854
  • Since beginning of last month:
    • Site-wide: 80,756

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

genetics more details view paper
  • Downloaded 1,623 times
  • Download rankings, all-time:
    • Site-wide: 17,946
    • In genetics: 713
  • Year to date:
    • Site-wide: 148,856
  • Since beginning of last month:
    • Site-wide: 62,777

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

genetics more details view paper
  • Downloaded 1,555 times
  • Download rankings, all-time:
    • Site-wide: 19,177
    • In genetics: 786
  • Year to date:
    • Site-wide: 77,588
  • Since beginning of last month:
    • Site-wide: 36,482

Mitochondrial DNA variation across 56,434 individuals in gnomAD

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  • Downloaded 1,470 times
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    • Site-wide: 21,019
    • In genomics: 1,864
  • Year to date:
    • Site-wide: 10,745
  • Since beginning of last month:
    • Site-wide: 35,492

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

genomics more details view paper
  • Downloaded 1,455 times
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    • Site-wide: 21,330
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 18,473
  • Since beginning of last month:
    • Site-wide: 11,672

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

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  • Downloaded 1,454 times
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    • Site-wide: 21,370
    • In genomics: 1,834
  • Year to date:
    • Site-wide: 171,704
  • Since beginning of last month:
    • Site-wide: 70,578

Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

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  • Downloaded 1,363 times
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    • Site-wide: 23,670
    • In genomics: 2,008
  • Year to date:
    • Site-wide: 76,559
  • Since beginning of last month:
    • Site-wide: 96,131

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

genomics more details view paper
  • Downloaded 1,175 times
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    • Site-wide: 29,974
    • In genomics: 2,473
  • Year to date:
    • Site-wide: 143,838
  • Since beginning of last month:
    • Site-wide: 106,964

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

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  • Downloaded 1,151 times
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    • Site-wide: 30,937
    • In genomics: 2,525
  • Year to date:
    • Site-wide: 188,519
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    • Site-wide: 145,674

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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  • Downloaded 670 times
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    • Site-wide: 69,555
    • In genetic and genomic medicine: 441
  • Year to date:
    • Site-wide: 17,844
  • Since beginning of last month:
    • Site-wide: 53,779

The genetic and clinical landscape of nanophthalmos in an Australian cohort

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  • Downloaded 367 times
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    • Site-wide: 134,490
    • In genetic and genomic medicine: 884
  • Year to date:
    • Site-wide: 184,411
  • Since beginning of last month:
    • Site-wide: 131,692

Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing

genomics more details view paper
  • Downloaded 297 times
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    • Site-wide: 155,392
    • In genomics: 8,032
  • Year to date:
    • Site-wide: 25,223
  • Since beginning of last month:
    • Site-wide: 53,661

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

genetic and genomic medicine more details view paper
  • Downloaded 157 times
  • Download rankings, all-time:
    • Site-wide: 191,173
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 61,501
  • Since beginning of last month:
    • Site-wide: 19,446

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