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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 57,812 bioRxiv papers from 266,109 authors.

Author: Matthew E Hurles

Rankings

  • All-time downloads: 24,637 (rank: 749 out of 266,109)
  • Categories:
    • genetics: 20,711 (rank: 236 out of 25,354)
    • genomics: 3,926 (rank: 3,333 out of 30,376)

Downloads per author, site-wide

Preprints

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

genetics more details view paper
  • Downloaded 6,874 times
  • Download rankings, all-time:
    • Site-wide: 202 out of 57,812
    • In genetics: 20 out of 3,318
  • Year to date:
    • Site-wide: 6,348 out of 57,812
  • Since beginning of last month:
    • Site-wide: 12,204 out of 57,812

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,742 times
  • Download rankings, all-time:
    • Site-wide: 208 out of 57,812
    • In genetics: 22 out of 3,318
  • Year to date:
    • Site-wide: 14,430 out of 57,812
  • Since beginning of last month:
    • Site-wide: 27,067 out of 57,812

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,980 times
  • Download rankings, all-time:
    • Site-wide: 2,088 out of 57,812
    • In genetics: 208 out of 3,318
  • Year to date:
    • Site-wide: 32,667 out of 57,812
  • Since beginning of last month:
    • Site-wide: 28,122 out of 57,812

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,611 times
  • Download rankings, all-time:
    • Site-wide: 2,984 out of 57,812
    • In genetics: 269 out of 3,318
  • Year to date:
    • Site-wide: 10,402 out of 57,812
  • Since beginning of last month:
    • Site-wide: 17,144 out of 57,812

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,522 times
  • Download rankings, all-time:
    • Site-wide: 3,263 out of 57,812
    • In genetics: 293 out of 3,318
  • Year to date:
    • Site-wide: 16,368 out of 57,812
  • Since beginning of last month:
    • Site-wide: 19,910 out of 57,812

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,095 times
  • Download rankings, all-time:
    • Site-wide: 5,627 out of 57,812
    • In genetics: 463 out of 3,318
  • Year to date:
    • Site-wide: 6,038 out of 57,812
  • Since beginning of last month:
    • Site-wide: 13,113 out of 57,812

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 1,040 times
  • Download rankings, all-time:
    • Site-wide: 6,125 out of 57,812
    • In genomics: 1,026 out of 4,058
  • Year to date:
    • Site-wide: 50,250 out of 57,812
  • Since beginning of last month:
    • Site-wide: 50,229 out of 57,812

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

genomics more details view paper
  • Downloaded 890 times
  • Download rankings, all-time:
    • Site-wide: 7,836 out of 57,812
    • In genomics: 1,225 out of 4,058
  • Year to date:
    • Site-wide: 37,357 out of 57,812
  • Since beginning of last month:
    • Site-wide: 42,912 out of 57,812

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

genomics more details view paper
  • Downloaded 833 times
  • Download rankings, all-time:
    • Site-wide: 8,713 out of 57,812
    • In genomics: 1,333 out of 4,058
  • Year to date:
    • Site-wide: 39,426 out of 57,812
  • Since beginning of last month:
    • Site-wide: 34,241 out of 57,812

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

genomics more details view paper
  • Downloaded 774 times
  • Download rankings, all-time:
    • Site-wide: 9,717 out of 57,812
    • In genomics: 1,439 out of 4,058
  • Year to date:
    • Site-wide: 21,702 out of 57,812
  • Since beginning of last month:
    • Site-wide: 23,338 out of 57,812

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 561 times
  • Download rankings, all-time:
    • Site-wide: 15,254 out of 57,812
    • In genetics: 1,064 out of 3,318
  • Year to date:
    • Site-wide: 9,036 out of 57,812
  • Since beginning of last month:
    • Site-wide: 14,260 out of 57,812

The epigenomic landscape regulating organogenesis in human embryos linked to developmental disorders

genomics more details view paper
  • Downloaded 389 times
  • Download rankings, all-time:
    • Site-wide: 23,433 out of 57,812
    • In genomics: 2,543 out of 4,058
  • Year to date:
    • Site-wide: 5,531 out of 57,812
  • Since beginning of last month:
    • Site-wide: 416 out of 57,812

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

genetics more details view paper
  • Downloaded 326 times
  • Download rankings, all-time:
    • Site-wide: 27,863 out of 57,812
    • In genetics: 1,808 out of 3,318
  • Year to date:
    • Site-wide: 26,476 out of 57,812
  • Since beginning of last month:
    • Site-wide: 27,214 out of 57,812

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