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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,616 bioRxiv papers from 308,309 authors.

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: 59,291 (rank: 221 out of 308,308)
  • Categories:
    • genetics: 2,210 (rank: 6,027 (tie) out of 30,558)
    • genomics: 57,081 (rank: 103 out of 34,863)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,567 times
  • Download rankings, all-time:
    • Site-wide: 30 out of 70,625
    • In genomics: 7 out of 4,714
  • Year to date:
    • Site-wide: 42,011 out of 70,625
  • Since beginning of last month:
    • Site-wide: 18,434 out of 70,625

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

genomics more details view paper
  • Downloaded 15,829 times
  • Download rankings, all-time:
    • Site-wide: 48 out of 70,625
    • In genomics: 11 out of 4,714
  • Year to date:
    • Site-wide: 64 out of 70,625
  • Since beginning of last month:
    • Site-wide: 48 out of 70,625

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,147 times
  • Download rankings, all-time:
    • Site-wide: 433 out of 70,625
    • In genomics: 113 out of 4,714
  • Year to date:
    • Site-wide: 44,851 out of 70,625
  • Since beginning of last month:
    • Site-wide: 26,778 out of 70,625

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

genomics more details view paper
  • Downloaded 3,665 times
  • Download rankings, all-time:
    • Site-wide: 854 out of 70,625
    • In genomics: 220 out of 4,714
  • Year to date:
    • Site-wide: 2,298 out of 70,625
  • Since beginning of last month:
    • Site-wide: 1,501 out of 70,625

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,511 times
  • Download rankings, all-time:
    • Site-wide: 1,717 out of 70,625
    • In genomics: 378 out of 4,714
  • Year to date:
    • Site-wide: 2,668 out of 70,625
  • Since beginning of last month:
    • Site-wide: 3,696 out of 70,625

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,870 times
  • Download rankings, all-time:
    • Site-wide: 2,878 out of 70,625
    • In genomics: 572 out of 4,714
  • Year to date:
    • Site-wide: 58,384 out of 70,625
  • Since beginning of last month:
    • Site-wide: 42,352 out of 70,625

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

genomics more details view paper
  • Downloaded 1,746 times
  • Download rankings, all-time:
    • Site-wide: 3,237 out of 70,625
    • In genomics: 627 out of 4,714
  • Year to date:
    • Site-wide: 40,247 out of 70,625
  • Since beginning of last month:
    • Site-wide: 24,457 out of 70,625

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 1,480 times
  • Download rankings, all-time:
    • Site-wide: 4,316 out of 70,625
    • In genomics: 780 out of 4,714
  • Year to date:
    • Site-wide: 7,710 out of 70,625
  • Since beginning of last month:
    • Site-wide: 4,692 out of 70,625

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

genomics more details view paper
  • Downloaded 1,146 times
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    • Site-wide: 6,607 out of 70,625
    • In genomics: 1,070 out of 4,714
  • Year to date:
    • Site-wide: 8,335 out of 70,625
  • Since beginning of last month:
    • Site-wide: 17,297 out of 70,625

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

genomics more details view paper
  • Downloaded 1,123 times
  • Download rankings, all-time:
    • Site-wide: 6,855 out of 70,625
    • In genomics: 1,109 out of 4,714
  • Year to date:
    • Site-wide: 18,198 out of 70,625
  • Since beginning of last month:
    • Site-wide: 5,551 out of 70,625

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

genetics more details view paper
  • Downloaded 1,000 times
  • Download rankings, all-time:
    • Site-wide: 8,268 out of 70,625
    • In genetics: 622 out of 3,914
  • Year to date:
    • Site-wide: 50,231 out of 70,625
  • Since beginning of last month:
    • Site-wide: 30,383 out of 70,625

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

genomics more details view paper
  • Downloaded 997 times
  • Download rankings, all-time:
    • Site-wide: 8,301 out of 70,625
    • In genomics: 1,291 out of 4,714
  • Year to date:
    • Site-wide: 68,716 out of 70,625
  • Since beginning of last month:
    • Site-wide: 58,804 out of 70,625

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 971 times
  • Download rankings, all-time:
    • Site-wide: 8,679 out of 70,625
    • In genetics: 655 out of 3,914
  • Year to date:
    • Site-wide: 41,313 out of 70,625
  • Since beginning of last month:
    • Site-wide: 44,458 out of 70,625

Junction-skipping regulation in complex disease

genetics more details view paper
  • Downloaded 239 times
  • Download rankings, all-time:
    • Site-wide: 46,369 out of 70,625
    • In genetics: 2,773 out of 3,914
  • Year to date:
    • Site-wide: 24,328 out of 70,625
  • Since beginning of last month:
    • Site-wide: 19,834 out of 70,625

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