Rxivist logo

Author: Egor Dolzhenko

Rankings

  • All-time downloads: 14,001 (rank: 13,047 (tie) )
  • Categories:
    • bioinformatics: 3,987 (rank: 3,092 (tie) )
    • genetics: 3,774 (rank: 4,605 (tie) )
    • genomics: 5,555 (rank: 3,976 )
    • neurology: 685 (rank: 1,329 (tie) )

Downloads per author, site-wide

Preprints

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

genomics more details view paper
  • Downloaded 3,008 times
  • Download rankings, all-time:
    • Site-wide: 4,089
    • In genomics: 468
  • Year to date:
    • Site-wide: 17,701
  • Since beginning of last month:
    • Site-wide: 21,726

Detection of long repeat expansions from PCR-free whole-genome sequence data

bioinformatics more details view paper
  • Downloaded 2,271 times
  • Download rankings, all-time:
    • Site-wide: 6,182
    • In bioinformatics: 710
  • Year to date:
    • Site-wide: 57,563
  • Since beginning of last month:
    • Site-wide: 87,996

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

genetics more details view paper
  • Downloaded 2,237 times
  • Download rankings, all-time:
    • Site-wide: 6,312
    • In genetics: 301
  • Year to date:
    • Site-wide: 23,683
  • Since beginning of last month:
    • Site-wide: 17,546

Paragraph: A graph-based structural variant genotyper for short-read sequence data

genomics more details view paper
  • Downloaded 1,808 times
  • Download rankings, all-time:
    • Site-wide: 8,668
    • In genomics: 942
  • Year to date:
    • Site-wide: 63,269
  • Since beginning of last month:
    • Site-wide: 82,870

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

genetics more details view paper
  • Downloaded 1,171 times
  • Download rankings, all-time:
    • Site-wide: 16,578
    • In genetics: 807
  • Year to date:
    • Site-wide: 48,816
  • Since beginning of last month:
    • Site-wide: 35,504

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

bioinformatics more details view paper
  • Downloaded 941 times
  • Download rankings, all-time:
    • Site-wide: 22,826
    • In bioinformatics: 2,701
  • Year to date:
    • Site-wide: 62,868
  • Since beginning of last month:
    • Site-wide: 56,917

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

bioinformatics more details view paper
  • Downloaded 775 times
  • Download rankings, all-time:
    • Site-wide: 30,019
    • In bioinformatics: 3,431
  • Year to date:
    • Site-wide: 52,094
  • Since beginning of last month:
    • Site-wide: 65,175

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 32,076
    • In genomics: 2,848
  • Year to date:
    • Site-wide: 9,805
  • Since beginning of last month:
    • Site-wide: 16,214

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

neurology more details view paper
  • Downloaded 685 times
  • Download rankings, all-time:
    • Site-wide: 35,601
    • In neurology: 64
  • Year to date:
    • Site-wide: 1,832
  • Since beginning of last month:
    • Site-wide: 501

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

genetics more details view paper
  • Downloaded 366 times
  • Download rankings, all-time:
    • Site-wide: 72,200
    • In genetics: 3,304
  • Year to date:
    • Site-wide: 38,695
  • Since beginning of last month:
    • Site-wide: 22,098

PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News