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Author: Beryl B. Cummings

  • ORCiD: http://orcid.org/0000-0001-6346-1646
  • Most recently observed institution: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA. Broad Institute of MIT and Harvard, Cambridge MA, USA

Rankings

  • All-time downloads: 62,909 (rank: 368 out of 336,472)
  • Categories:
    • genetics: 2,309 (rank: 6,079 (tie) out of 32,490)
    • genomics: 60,600 (rank: 104 out of 37,034)

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Preprints

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

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Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

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    • In genomics: 10 out of 5,088
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    • Site-wide: 103 out of 77,627
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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    • In genomics: 121 out of 5,088
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    • Site-wide: 25,932 out of 77,627

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

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    • In genomics: 214 out of 5,088
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    • Site-wide: 4,245 out of 77,627

Transcript expression-aware annotation improves rare variant discovery and interpretation

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    • In genomics: 315 out of 5,088
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Landscape of X chromosome inactivation across human tissues

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    • In genomics: 611 out of 5,088
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A quantitative model for characterizing the evolutionary history of mammalian gene expression

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    • Site-wide: 40,596 out of 77,627

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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

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    • Site-wide: 6,816 out of 77,627

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

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    • In genomics: 1,097 out of 5,088
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
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    • Site-wide: 36,048 out of 77,627
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    • Site-wide: 39,062 out of 77,627

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

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    • In genomics: 1,399 out of 5,088
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    • Site-wide: 72,269 out of 77,627

The Genetic Landscape of Diamond-Blackfan Anemia

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    • In genetics: 677 out of 4,187
  • Year to date:
    • Site-wide: 40,443 out of 77,627
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    • Site-wide: 53,829 out of 77,627

Junction-skipping regulation in complex disease

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  • Downloaded 266 times
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    • Site-wide: 48,985 out of 77,627
    • In genetics: 2,870 out of 4,187
  • Year to date:
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  • Since beginning of last month:
    • Site-wide: 34,616 out of 77,627

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