Rxivist logo

Author: Michael A. Eberle

Rankings

  • All-time downloads: 22,707 (rank: 7,322 )
  • Categories:
    • bioinformatics: 8,133 (rank: 1,108 (tie) )
    • genetic and genomic medicine: 1,105 (rank: 1,564 (tie) )
    • genetics: 3,774 (rank: 4,608 (tie) )
    • genomics: 9,010 (rank: 2,098 )
    • neurology: 685 (rank: 1,331 (tie) )

Downloads per author, site-wide

Preprints

Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes

genomics more details view paper
  • Downloaded 6,437 times
  • Download rankings, all-time:
    • Site-wide: 1,404
    • In genomics: 128
  • Year to date:
    • Site-wide: 4,106
  • Since beginning of last month:
    • Site-wide: 2,307

A reference dataset of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

bioinformatics more details view paper
  • Downloaded 2,850 times
  • Download rankings, all-time:
    • Site-wide: 4,434
    • In bioinformatics: 463
  • Year to date:
    • Site-wide: 98,387
  • Since beginning of last month:
    • Site-wide: 89,690

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: 6,206
    • In bioinformatics: 712
  • Year to date:
    • Site-wide: 59,166
  • Since beginning of last month:
    • Site-wide: 89,131

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: 6,339
    • In genetics: 302
  • Year to date:
    • Site-wide: 24,542
  • Since beginning of last month:
    • Site-wide: 18,809

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

genomics more details view paper
  • Downloaded 1,816 times
  • Download rankings, all-time:
    • Site-wide: 8,648
    • In genomics: 937
  • Year to date:
    • Site-wide: 54,542
  • Since beginning of last month:
    • Site-wide: 53,903

Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data

bioinformatics more details view paper
  • Downloaded 1,296 times
  • Download rankings, all-time:
    • Site-wide: 14,300
    • In bioinformatics: 1,739
  • Year to date:
    • Site-wide: 8,395
  • Since beginning of last month:
    • Site-wide: 13,607

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: 16,625
    • In genetics: 813
  • Year to date:
    • Site-wide: 50,234
  • Since beginning of last month:
    • Site-wide: 38,875

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

genetic and genomic medicine more details view paper
  • Downloaded 1,105 times
  • Download rankings, all-time:
    • Site-wide: 18,135
    • In genetic and genomic medicine: 56
  • Year to date:
    • Site-wide: 19,274
  • Since beginning of last month:
    • Site-wide: 21,819

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: 22,912
    • In bioinformatics: 2,705
  • Year to date:
    • Site-wide: 64,612
  • Since beginning of last month:
    • Site-wide: 58,161

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: 30,163
    • In bioinformatics: 3,442
  • Year to date:
    • Site-wide: 53,861
  • Since beginning of last month:
    • Site-wide: 72,128

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 757 times
  • Download rankings, all-time:
    • Site-wide: 31,176
    • In genomics: 2,790
  • Year to date:
    • Site-wide: 9,085
  • Since beginning of last month:
    • Site-wide: 12,602

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: 35,686
    • In neurology: 64
  • Year to date:
    • Site-wide: 1,906
  • Since beginning of last month:
    • Site-wide: 545

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: 72,536
    • In genetics: 3,315
  • Year to date:
    • Site-wide: 39,996
  • Since beginning of last month:
    • Site-wide: 24,256

PanLingua

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


News