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Author: Ben Weisburd

  • ORCiD: http://orcid.org/0000-0001-9898-9109
  • Most recently observed institution: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

Rankings

  • All-time downloads: 60,643 (rank: 3,354 )
  • Categories:
    • bioinformatics: 473 (rank: 32,062 (tie) )
    • genetic and genomic medicine: 1,652 (rank: 2,977 (tie) )
    • genetics: 2,995 (rank: 6,974 (tie) )
    • genomics: 55,523 (rank: 191 )

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
  • Since beginning of last month:
    • Site-wide: 5,084

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

genomics more details view paper
  • Downloaded 22,239 times
  • Download rankings, all-time:
    • Site-wide: 428
    • In genomics: 13
  • Year to date:
    • Site-wide: 53,075
  • Since beginning of last month:
    • Site-wide: 27,657

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,701 times
  • Download rankings, all-time:
    • Site-wide: 2,349
    • In genomics: 192
  • Year to date:
    • Site-wide: 51,984
  • Since beginning of last month:
    • Site-wide: 33,089

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,564 times
  • Download rankings, all-time:
    • Site-wide: 15,011
    • In genetics: 646
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 121,323

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

genetics more details view paper
  • Downloaded 1,431 times
  • Download rankings, all-time:
    • Site-wide: 17,210
    • In genetics: 754
  • Year to date:
    • Site-wide: 74,428
  • Since beginning of last month:
    • Site-wide: 148,105

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

genomics more details view paper
  • Downloaded 1,110 times
  • Download rankings, all-time:
    • Site-wide: 25,321
    • In genomics: 2,268
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 98,840

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

genomics more details view paper
  • Downloaded 1,097 times
  • Download rankings, all-time:
    • Site-wide: 25,777
    • In genomics: 2,311
  • Year to date:
    • Site-wide: 66,069
  • Since beginning of last month:
    • Site-wide: 44,276

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 991 times
  • Download rankings, all-time:
    • Site-wide: 30,002
    • In genetic and genomic medicine: 150
  • Year to date:
    • Site-wide: 41,992
  • Since beginning of last month:
    • Site-wide: 35,705

seqr: a web-based analysis and collaboration tool for rare disease genomics

genetic and genomic medicine more details view paper
  • Downloaded 661 times
  • Download rankings, all-time:
    • Site-wide: 53,471
    • In genetic and genomic medicine: 265
  • Year to date:
    • Site-wide: 34,503
  • Since beginning of last month:
    • Site-wide: 6,230

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

bioinformatics more details view paper
  • Downloaded 473 times
  • Download rankings, all-time:
    • Site-wide: 80,430
    • In bioinformatics: 7,306
  • Year to date:
    • Site-wide: 136,296
  • Since beginning of last month:
    • Site-wide: 20,674

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