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Author: Ben Weisburd

Rankings

  • All-time downloads: 52,446 (rank: 679 out of 381,520)
  • Categories:
    • genetics: 2,583 (rank: 5,901 (tie) out of 35,237)
    • genomics: 49,863 (rank: 126 out of 40,691)

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Preprints

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

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

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  • Downloaded 21,803 times
  • Download rankings, all-time:
    • Site-wide: 65 out of 88,995
    • In genomics: 8 out of 5,673
  • Year to date:
    • Site-wide: 138 out of 88,995
  • Since beginning of last month:
    • Site-wide: 370 out of 88,995

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

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  • Downloaded 21,746 times
  • Download rankings, all-time:
    • Site-wide: 66 out of 88,995
    • In genomics: 9 out of 5,673
  • Year to date:
    • Site-wide: 17,642 out of 88,995
  • Since beginning of last month:
    • Site-wide: 25,990 out of 88,995

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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  • Downloaded 5,282 times
  • Download rankings, all-time:
    • Site-wide: 672 out of 88,995
    • In genomics: 138 out of 5,673
  • Year to date:
    • Site-wide: 25,442 out of 88,995
  • Since beginning of last month:
    • Site-wide: 11,037 out of 88,995

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

genetics more details view paper
  • Downloaded 1,483 times
  • Download rankings, all-time:
    • Site-wide: 5,946 out of 88,995
    • In genetics: 439 out of 4,605
  • Year to date:
    • Site-wide: 75,291 out of 88,995
  • Since beginning of last month:
    • Site-wide: 61,015 out of 88,995

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

genetics more details view paper
  • Downloaded 1,100 times
  • Download rankings, all-time:
    • Site-wide: 9,778 out of 88,995
    • In genetics: 669 out of 4,605
  • Year to date:
    • Site-wide: 36,395 out of 88,995
  • Since beginning of last month:
    • Site-wide: 30,423 out of 88,995

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

genomics more details view paper
  • Downloaded 1,032 times
  • Download rankings, all-time:
    • Site-wide: 10,874 out of 88,995
    • In genomics: 1,553 out of 5,673
  • Year to date:
    • Site-wide: 84,299 out of 88,995
  • Since beginning of last month:
    • Site-wide: 83,492 out of 88,995

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