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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 67,221 bioRxiv papers from 295,976 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: 57,497 (rank: 225 out of 295,976)
  • Categories:
    • genetics: 2,146 (rank: 5,880 out of 29,470)
    • genomics: 55,351 (rank: 102 out of 33,658)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,535 times
  • Download rankings, all-time:
    • Site-wide: 27 out of 67,221
    • In genomics: 7 out of 4,566
  • Year to date:
    • Site-wide: 3,440 out of 67,221
  • Since beginning of last month:
    • Site-wide: 8,550 out of 67,221

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 14,611 times
  • Download rankings, all-time:
    • Site-wide: 53 out of 67,221
    • In genomics: 15 out of 4,566
  • Year to date:
    • Site-wide: 10 out of 67,221
  • Since beginning of last month:
    • Site-wide: 59 out of 67,221

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,126 times
  • Download rankings, all-time:
    • Site-wide: 412 out of 67,221
    • In genomics: 107 out of 4,566
  • Year to date:
    • Site-wide: 13,529 out of 67,221
  • Since beginning of last month:
    • Site-wide: 19,000 out of 67,221

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

genomics more details view paper
  • Downloaded 3,524 times
  • Download rankings, all-time:
    • Site-wide: 868 out of 67,221
    • In genomics: 221 out of 4,566
  • Year to date:
    • Site-wide: 176 out of 67,221
  • Since beginning of last month:
    • Site-wide: 1,179 out of 67,221

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,420 times
  • Download rankings, all-time:
    • Site-wide: 1,740 out of 67,221
    • In genomics: 385 out of 4,566
  • Year to date:
    • Site-wide: 373 out of 67,221
  • Since beginning of last month:
    • Site-wide: 2,032 out of 67,221

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,858 times
  • Download rankings, all-time:
    • Site-wide: 2,747 out of 67,221
    • In genomics: 550 out of 4,566
  • Year to date:
    • Site-wide: 40,508 out of 67,221
  • Since beginning of last month:
    • Site-wide: 42,967 out of 67,221

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

genomics more details view paper
  • Downloaded 1,728 times
  • Download rankings, all-time:
    • Site-wide: 3,122 out of 67,221
    • In genomics: 611 out of 4,566
  • Year to date:
    • Site-wide: 14,092 out of 67,221
  • Since beginning of last month:
    • Site-wide: 34,546 out of 67,221

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 1,395 times
  • Download rankings, all-time:
    • Site-wide: 4,481 out of 67,221
    • In genomics: 800 out of 4,566
  • Year to date:
    • Site-wide: 1,073 out of 67,221
  • Since beginning of last month:
    • Site-wide: 5,776 out of 67,221

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

genomics more details view paper
  • Downloaded 1,102 times
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    • Site-wide: 6,618 out of 67,221
    • In genomics: 1,081 out of 4,566
  • Year to date:
    • Site-wide: 1,642 out of 67,221
  • Since beginning of last month:
    • Site-wide: 10,747 out of 67,221

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

genomics more details view paper
  • Downloaded 1,058 times
  • Download rankings, all-time:
    • Site-wide: 7,077 out of 67,221
    • In genomics: 1,138 out of 4,566
  • Year to date:
    • Site-wide: 1,754 out of 67,221
  • Since beginning of last month:
    • Site-wide: 14,245 out of 67,221

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

genomics more details view paper
  • Downloaded 994 times
  • Download rankings, all-time:
    • Site-wide: 7,809 out of 67,221
    • In genomics: 1,239 out of 4,566
  • Year to date:
    • Site-wide: 50,082 out of 67,221
  • Since beginning of last month:
    • Site-wide: 34,812 out of 67,221

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

genetics more details view paper
  • Downloaded 983 times
  • Download rankings, all-time:
    • Site-wide: 7,947 out of 67,221
    • In genetics: 602 out of 3,777
  • Year to date:
    • Site-wide: 24,572 out of 67,221
  • Since beginning of last month:
    • Site-wide: 23,318 out of 67,221

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 956 times
  • Download rankings, all-time:
    • Site-wide: 8,328 out of 67,221
    • In genetics: 631 out of 3,777
  • Year to date:
    • Site-wide: 20,734 out of 67,221
  • Since beginning of last month:
    • Site-wide: 32,108 out of 67,221

Junction-skipping regulation in complex disease

genetics more details view paper
  • Downloaded 207 times
  • Download rankings, all-time:
    • Site-wide: 47,381 out of 67,221
    • In genetics: 2,838 out of 3,777
  • Year to date:
    • Site-wide: 24,183 out of 67,221
  • Since beginning of last month:
    • Site-wide: 21,383 out of 67,221

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