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Author: Beryl Cummings

Rankings

  • All-time downloads: 79,847 (rank: 2,553 )
  • Categories:
    • genetics: 3,062 (rank: 6,990 )
    • genomics: 76,785 (rank: 126 )

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: 383
    • In genomics: 11
  • Year to date:
    • Site-wide: 10,581
  • Since beginning of last month:
    • Site-wide: 5,170

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: 435
    • In genomics: 13
  • Year to date:
    • Site-wide: 12,154
  • Since beginning of last month:
    • Site-wide: 28,377

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,701 times
  • Download rankings, all-time:
    • Site-wide: 2,369
    • In genomics: 194
  • Year to date:
    • Site-wide: 78,957
  • Since beginning of last month:
    • Site-wide: 33,698

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: 2,612
    • In genomics: 225
  • Year to date:
    • Site-wide: 50,208
  • Since beginning of last month:
    • Site-wide: 61,512

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: 3,828
    • In genomics: 370
  • Year to date:
    • Site-wide: 108,124
  • Since beginning of last month:
    • Site-wide: 28,394

Transcriptome variation in human tissues revealed by long-read sequencing

genomics more details view paper
  • Downloaded 3,652 times
  • Download rankings, all-time:
    • Site-wide: 4,379
    • In genomics: 423
  • Year to date:
    • Site-wide: 3,943
  • Since beginning of last month:
    • Site-wide: 3,164

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 2,119 times
  • Download rankings, all-time:
    • Site-wide: 9,555
    • In genomics: 933
  • Year to date:
    • Site-wide: 81,685
  • Since beginning of last month:
    • Site-wide: 149,140

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: 9,662
    • In genomics: 946
  • Year to date:
    • Site-wide: 78,164
  • Since beginning of last month:
    • Site-wide: 40,721

A quantitative model for characterizing the evolutionary history of mammalian gene expression

genomics more details view paper
  • Downloaded 1,991 times
  • Download rankings, all-time:
    • Site-wide: 10,529
    • In genomics: 1,021
  • Year to date:
    • Site-wide: 110,305
  • Since beginning of last month:
    • Site-wide: 69,560

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

genomics more details view paper
  • Downloaded 1,643 times
  • Download rankings, all-time:
    • Site-wide: 13,962
    • In genomics: 1,349
  • Year to date:
    • Site-wide: 46,800
  • Since beginning of last month:
    • Site-wide: 150,363

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: 15,768
    • In genomics: 1,504
  • Year to date:
    • Site-wide: 86,661
  • Since beginning of last month:
    • Site-wide: 151,822

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

genetics more details view paper
  • Downloaded 1,431 times
  • Download rankings, all-time:
    • Site-wide: 17,316
    • In genetics: 755
  • Year to date:
    • Site-wide: 116,990
  • Since beginning of last month:
    • Site-wide: 147,523

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,191 times
  • Download rankings, all-time:
    • Site-wide: 22,870
    • In genetics: 978
  • Year to date:
    • Site-wide: 81,766
  • Since beginning of last month:
    • Site-wide: 95,283

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

genomics more details view paper
  • Downloaded 1,110 times
  • Download rankings, all-time:
    • Site-wide: 25,460
    • In genomics: 2,272
  • Year to date:
    • Site-wide: 126,886
  • Since beginning of last month:
    • Site-wide: 100,684

Junction-skipping regulation in complex disease

genetics more details view paper
  • Downloaded 440 times
  • Download rankings, all-time:
    • Site-wide: 87,517
    • In genetics: 3,600
  • Year to date:
    • Site-wide: 142,860
  • Since beginning of last month:
    • Site-wide: 165,978

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