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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,903 bioRxiv papers from 309,378 authors.

Author: Daniel MacArthur

Rankings

  • All-time downloads: 23,808 (rank: 1,083 out of 309,498)
  • Categories:
    • bioinformatics: 5,234 (rank: 1,174 out of 26,887)
    • genetics: 6,952 (rank: 2,228 out of 30,613)
    • genomics: 11,622 (rank: 904 out of 34,893)

Downloads per author, site-wide

Preprints

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 4,658 times
  • Download rankings, all-time:
    • Site-wide: 535 out of 70,927
    • In genomics: 137 out of 4,728
  • Year to date:
    • Site-wide: 844 out of 70,927
  • Since beginning of last month:
    • Site-wide: 1,349 out of 70,927

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
  • Downloaded 3,134 times
  • Download rankings, all-time:
    • Site-wide: 1,161 out of 70,927
    • In genetics: 102 out of 3,928
  • Year to date:
    • Site-wide: 5,504 out of 70,927
  • Since beginning of last month:
    • Site-wide: 24,199 out of 70,927

New synthetic-diploid benchmark for accurate variant calling evaluation

bioinformatics more details view paper
  • Downloaded 2,904 times
  • Download rankings, all-time:
    • Site-wide: 1,333 out of 70,927
    • In bioinformatics: 266 out of 6,940
  • Year to date:
    • Site-wide: 25,588 out of 70,927
  • Since beginning of last month:
    • Site-wide: 17,159 out of 70,927

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

genomics more details view paper
  • Downloaded 2,880 times
  • Download rankings, all-time:
    • Site-wide: 1,356 out of 70,927
    • In genomics: 306 out of 4,728
  • Year to date:
    • Site-wide: 14,273 out of 70,927
  • Since beginning of last month:
    • Site-wide: 19,524 out of 70,927

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,330 times
  • Download rankings, all-time:
    • Site-wide: 1,987 out of 70,927
    • In bioinformatics: 404 out of 6,940
  • Year to date:
    • Site-wide: 29,779 out of 70,927
  • Since beginning of last month:
    • Site-wide: 36,080 out of 70,927

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 1,887 times
  • Download rankings, all-time:
    • Site-wide: 2,847 out of 70,927
    • In genetics: 253 out of 3,928
  • Year to date:
    • Site-wide: 53,311 out of 70,927
  • Since beginning of last month:
    • Site-wide: 32,254 out of 70,927

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,324 times
  • Download rankings, all-time:
    • Site-wide: 5,213 out of 70,927
    • In genetics: 420 out of 3,928
  • Year to date:
    • Site-wide: 31,737 out of 70,927
  • Since beginning of last month:
    • Site-wide: 65,611 out of 70,927

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,222 times
  • Download rankings, all-time:
    • Site-wide: 5,961 out of 70,927
    • In genomics: 991 out of 4,728
  • Year to date:
    • Site-wide: 38,759 out of 70,927
  • Since beginning of last month:
    • Site-wide: 24,218 out of 70,927

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

genomics more details view paper
  • Downloaded 1,146 times
  • Download rankings, all-time:
    • Site-wide: 6,639 out of 70,927
    • In genomics: 1,077 out of 4,728
  • Year to date:
    • Site-wide: 10,416 out of 70,927
  • Since beginning of last month:
    • Site-wide: 17,309 out of 70,927

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.

genomics more details view paper
  • Downloaded 949 times
  • Download rankings, all-time:
    • Site-wide: 9,096 out of 70,927
    • In genomics: 1,385 out of 4,728
  • Year to date:
    • Site-wide: 26,224 out of 70,927
  • Since beginning of last month:
    • Site-wide: 38,357 out of 70,927

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

genomics more details view paper
  • Downloaded 767 times
  • Download rankings, all-time:
    • Site-wide: 12,580 out of 70,927
    • In genomics: 1,735 out of 4,728
  • Year to date:
    • Site-wide: 11,346 out of 70,927
  • Since beginning of last month:
    • Site-wide: 16,282 out of 70,927

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

genetics more details view paper
  • Downloaded 607 times
  • Download rankings, all-time:
    • Site-wide: 17,668 out of 70,927
    • In genetics: 1,190 out of 3,928
  • Year to date:
    • Site-wide: 14,904 out of 70,927
  • Since beginning of last month:
    • Site-wide: 8,644 out of 70,927

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