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Author: Ben W. Weisburd

Rankings

  • All-time downloads: 64,903 (rank: 3,714 )
  • Categories:
    • bioinformatics: 695 (rank: 28,295 (tie) )
    • genetic and genomic medicine: 2,427 (rank: 2,638 )
    • genetics: 3,095 (rank: 7,771 (tie) )
    • genomics: 56,459 (rank: 240 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,001
  • Since beginning of last month:
    • Site-wide: 2,826

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

genomics more details view paper
  • Downloaded 22,453 times
  • Download rankings, all-time:
    • Site-wide: 497
    • In genomics: 16
  • Year to date:
    • Site-wide: 40,172
  • Since beginning of last month:
    • Site-wide: None

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,800 times
  • Download rankings, all-time:
    • Site-wide: 2,786
    • In genomics: 218
  • Year to date:
    • Site-wide: 93,402
  • Since beginning of last month:
    • Site-wide: 41,199

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

genetics more details view paper
  • Downloaded 1,623 times
  • Download rankings, all-time:
    • Site-wide: 17,971
    • In genetics: 713
  • Year to date:
    • Site-wide: 148,961
  • Since beginning of last month:
    • Site-wide: 44,287

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

genetics more details view paper
  • Downloaded 1,555 times
  • Download rankings, all-time:
    • Site-wide: 19,195
    • In genetics: 786
  • Year to date:
    • Site-wide: 77,748
  • Since beginning of last month:
    • Site-wide: 35,284

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

genomics more details view paper
  • Downloaded 1,455 times
  • Download rankings, all-time:
    • Site-wide: 21,340
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 18,492
  • Since beginning of last month:
    • Site-wide: 12,575

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

genetic and genomic medicine more details view paper
  • Downloaded 1,426 times
  • Download rankings, all-time:
    • Site-wide: 22,036
    • In genetic and genomic medicine: 153
  • Year to date:
    • Site-wide: 5,240
  • Since beginning of last month:
    • Site-wide: 4,698

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

genomics more details view paper
  • Downloaded 1,180 times
  • Download rankings, all-time:
    • Site-wide: 29,762
    • In genomics: 2,447
  • Year to date:
    • Site-wide: 109,286
  • Since beginning of last month:
    • Site-wide: 81,572

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

genomics more details view paper
  • Downloaded 1,151 times
  • Download rankings, all-time:
    • Site-wide: 30,943
    • In genomics: 2,525
  • Year to date:
    • Site-wide: 188,256
  • Since beginning of last month:
    • Site-wide: 123,776

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

genetic and genomic medicine more details view paper
  • Downloaded 1,073 times
  • Download rankings, all-time:
    • Site-wide: 34,473
    • In genetic and genomic medicine: 203
  • Year to date:
    • Site-wide: 108,337
  • Since beginning of last month:
    • Site-wide: 131,374

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

bioinformatics more details view paper
  • Downloaded 754 times
  • Download rankings, all-time:
    • Site-wide: 58,770
    • In bioinformatics: 5,878
  • Year to date:
    • Site-wide: 27,596
  • Since beginning of last month:
    • Site-wide: 180,572

Questioning the association of the STMN2 dinucleotide repeat with ALS

genetic and genomic medicine more details view paper
  • Downloaded 169 times
  • Download rankings, all-time:
    • Site-wide: 188,816
    • In genetic and genomic medicine: 1,364
  • Year to date:
    • Site-wide: 56,587
  • Since beginning of last month:
    • Site-wide: 114,321

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