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Author: Beryl Cummings

Rankings

  • All-time downloads: 84,014 (rank: 2,843 )
  • Categories:
    • genetics: 3,202 (rank: 7,466 (tie) )
    • genomics: 79,685 (rank: 143 )

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

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

Transcriptome variation in human tissues revealed by long-read sequencing

genomics more details view paper
  • Downloaded 5,652 times
  • Download rankings, all-time:
    • Site-wide: 2,889
    • In genomics: 271
  • Year to date:
    • Site-wide: 1,139
  • Since beginning of last month:
    • Site-wide: None

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

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

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

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 2,174 times
  • Download rankings, all-time:
    • Site-wide: 11,490
    • In genomics: 1,031
  • Year to date:
    • Site-wide: 152,603
  • Since beginning of last month:
    • Site-wide: 66,781

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

genomics more details view paper
  • Downloaded 2,038 times
  • Download rankings, all-time:
    • Site-wide: 12,638
    • In genomics: 1,112
  • Year to date:
    • Site-wide: 172,736
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,710 times
  • Download rankings, all-time:
    • Site-wide: 16,526
    • In genomics: 1,474
  • Year to date:
    • Site-wide: 124,155
  • Since beginning of last month:
    • Site-wide: 44,923

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

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: 19,195
    • In genetics: 786
  • Year to date:
    • Site-wide: 77,748
  • Since beginning of last month:
    • Site-wide: 35,284

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

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

genomics more details view paper
  • Downloaded 1,151 times
  • Download rankings, all-time:
    • Site-wide: 30,943
    • In genomics: 2,525
  • Year to date:
    • Site-wide: 188,256
  • Since beginning of last month:
    • Site-wide: 123,776

Junction-skipping regulation in complex disease

genetics more details view paper
  • Downloaded 486 times
  • Download rankings, all-time:
    • Site-wide: 103,493
    • In genetics: 3,860
  • Year to date:
    • Site-wide: 176,551
  • Since beginning of last month:
    • Site-wide: None

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