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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 52,258 bioRxiv papers from 242,323 authors.

Author: Matthew E Hurles

Rankings

  • All-time downloads: 23,735 (rank: 705 out of 242,323)
  • Categories:
    • genetics: 20,314 (rank: 232 out of 23,571)
    • genomics: 3,421 (rank: 3,536 out of 28,035)

Downloads per author, site-wide

Preprints

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

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  • Downloaded 6,801 times
  • Download rankings, all-time:
    • Site-wide: 184 out of 52,258
    • In genetics: 18 out of 3,048
  • Year to date:
    • Site-wide: 5,513 out of 52,258
  • Since beginning of last month:
    • Site-wide: 7,607 out of 52,258

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,701 times
  • Download rankings, all-time:
    • Site-wide: 189 out of 52,258
    • In genetics: 19 out of 3,048
  • Year to date:
    • Site-wide: 11,866 out of 52,258
  • Since beginning of last month:
    • Site-wide: 20,172 out of 52,258

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,947 times
  • Download rankings, all-time:
    • Site-wide: 1,927 out of 52,258
    • In genetics: 192 out of 3,048
  • Year to date:
    • Site-wide: 29,929 out of 52,258
  • Since beginning of last month:
    • Site-wide: 42,073 out of 52,258

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,556 times
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    • Site-wide: 2,802 out of 52,258
    • In genetics: 258 out of 3,048
  • Year to date:
    • Site-wide: 8,912 out of 52,258
  • Since beginning of last month:
    • Site-wide: 14,834 out of 52,258

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,477 times
  • Download rankings, all-time:
    • Site-wide: 3,053 out of 52,258
    • In genetics: 283 out of 3,048
  • Year to date:
    • Site-wide: 14,264 out of 52,258
  • Since beginning of last month:
    • Site-wide: 13,236 out of 52,258

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,032 times
  • Download rankings, all-time:
    • Site-wide: 5,424 out of 52,258
    • In genetics: 459 out of 3,048
  • Year to date:
    • Site-wide: 4,924 out of 52,258
  • Since beginning of last month:
    • Site-wide: 5,129 out of 52,258

A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

genomics more details view paper
  • Downloaded 1,023 times
  • Download rankings, all-time:
    • Site-wide: 5,514 out of 52,258
    • In genomics: 949 out of 3,742
  • Year to date:
    • Site-wide: 43,373 out of 52,258
  • Since beginning of last month:
    • Site-wide: 32,535 out of 52,258

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

genomics more details view paper
  • Downloaded 864 times
  • Download rankings, all-time:
    • Site-wide: 7,198 out of 52,258
    • In genomics: 1,148 out of 3,742
  • Year to date:
    • Site-wide: 32,541 out of 52,258
  • Since beginning of last month:
    • Site-wide: 20,678 out of 52,258

Detection of structural mosaicism from targeted and whole-genome sequencing data

genomics more details view paper
  • Downloaded 801 times
  • Download rankings, all-time:
    • Site-wide: 8,093 out of 52,258
    • In genomics: 1,268 out of 3,742
  • Year to date:
    • Site-wide: 37,478 out of 52,258
  • Since beginning of last month:
    • Site-wide: 23,445 out of 52,258

Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations

genomics more details view paper
  • Downloaded 733 times
  • Download rankings, all-time:
    • Site-wide: 9,235 out of 52,258
    • In genomics: 1,377 out of 3,742
  • Year to date:
    • Site-wide: 19,506 out of 52,258
  • Since beginning of last month:
    • Site-wide: 27,644 out of 52,258

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 506 times
  • Download rankings, all-time:
    • Site-wide: 15,117 out of 52,258
    • In genetics: 1,080 out of 3,048
  • Year to date:
    • Site-wide: 7,558 out of 52,258
  • Since beginning of last month:
    • Site-wide: 2,566 out of 52,258

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

genetics more details view paper
  • Downloaded 294 times
  • Download rankings, all-time:
    • Site-wide: 26,613 out of 52,258
    • In genetics: 1,774 out of 3,048
  • Year to date:
    • Site-wide: 23,129 out of 52,258
  • Since beginning of last month:
    • Site-wide: 16,964 out of 52,258

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