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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 62,709 bioRxiv papers from 278,266 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: 54,252 (rank: 232 out of 278,266)
  • Categories:
    • genetics: 1,882 (rank: 6,406 (tie) out of 27,714)
    • genomics: 52,370 (rank: 102 out of 31,942)

Downloads per author, site-wide

Preprints

Junction-skipping regulation in complex disease

genetics more details view paper

No bioRxiv download data for this paper yet.

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

genomics more details view paper
  • Downloaded 21,430 times
  • Download rankings, all-time:
    • Site-wide: 24 out of 62,709
    • In genomics: 6 out of 4,312
  • Year to date:
    • Site-wide: 3,409 out of 62,709
  • Since beginning of last month:
    • Site-wide: 5,051 out of 62,709

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 12,643 times
  • Download rankings, all-time:
    • Site-wide: 69 out of 62,709
    • In genomics: 20 out of 4,312
  • Year to date:
    • Site-wide: 9 out of 62,709
  • Since beginning of last month:
    • Site-wide: 26 out of 62,709

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,093 times
  • Download rankings, all-time:
    • Site-wide: 388 out of 62,709
    • In genomics: 102 out of 4,312
  • Year to date:
    • Site-wide: 12,286 out of 62,709
  • Since beginning of last month:
    • Site-wide: 30,845 out of 62,709

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

genomics more details view paper
  • Downloaded 3,256 times
  • Download rankings, all-time:
    • Site-wide: 918 out of 62,709
    • In genomics: 235 out of 4,312
  • Year to date:
    • Site-wide: 154 out of 62,709
  • Since beginning of last month:
    • Site-wide: 1,378 out of 62,709

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,227 times
  • Download rankings, all-time:
    • Site-wide: 1,833 out of 62,709
    • In genomics: 408 out of 4,312
  • Year to date:
    • Site-wide: 319 out of 62,709
  • Since beginning of last month:
    • Site-wide: 1,155 out of 62,709

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,841 times
  • Download rankings, all-time:
    • Site-wide: 2,576 out of 62,709
    • In genomics: 524 out of 4,312
  • Year to date:
    • Site-wide: 37,184 out of 62,709
  • Since beginning of last month:
    • Site-wide: 53,103 out of 62,709

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

genomics more details view paper
  • Downloaded 1,705 times
  • Download rankings, all-time:
    • Site-wide: 2,927 out of 62,709
    • In genomics: 581 out of 4,312
  • Year to date:
    • Site-wide: 12,182 out of 62,709
  • Since beginning of last month:
    • Site-wide: 22,933 out of 62,709

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 1,245 times
  • Download rankings, all-time:
    • Site-wide: 4,926 out of 62,709
    • In genomics: 855 out of 4,312
  • Year to date:
    • Site-wide: 997 out of 62,709
  • Since beginning of last month:
    • Site-wide: 2,448 out of 62,709

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

genomics more details view paper
  • Downloaded 984 times
  • Download rankings, all-time:
    • Site-wide: 7,260 out of 62,709
    • In genomics: 1,156 out of 4,312
  • Year to date:
    • Site-wide: 1,507 out of 62,709
  • Since beginning of last month:
    • Site-wide: 8,030 out of 62,709

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

genomics more details view paper
  • Downloaded 975 times
  • Download rankings, all-time:
    • Site-wide: 7,349 out of 62,709
    • In genomics: 1,173 out of 4,312
  • Year to date:
    • Site-wide: 47,805 out of 62,709
  • Since beginning of last month:
    • Site-wide: 55,865 out of 62,709

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

genomics more details view paper
  • Downloaded 971 times
  • Download rankings, all-time:
    • Site-wide: 7,403 out of 62,709
    • In genomics: 1,186 out of 4,312
  • Year to date:
    • Site-wide: 1,542 out of 62,709
  • Since beginning of last month:
    • Site-wide: 2,131 out of 62,709

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

genetics more details view paper
  • Downloaded 948 times
  • Download rankings, all-time:
    • Site-wide: 7,691 out of 62,709
    • In genetics: 598 out of 3,561
  • Year to date:
    • Site-wide: 24,142 out of 62,709
  • Since beginning of last month:
    • Site-wide: 23,415 out of 62,709

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 934 times
  • Download rankings, all-time:
    • Site-wide: 7,877 out of 62,709
    • In genetics: 614 out of 3,561
  • Year to date:
    • Site-wide: 18,382 out of 62,709
  • Since beginning of last month:
    • Site-wide: 35,681 out of 62,709

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