Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 59,954 bioRxiv papers from 266,503 authors.

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

• Downloaded 21,368 times
• Download rankings, all-time:
  • Site-wide: 23 out of 59,954
  • In genomics: 5 out of 4,159
• Year to date:
  • Site-wide: 3,536 out of 59,954
• Since beginning of last month:
  • Site-wide: 4,918 out of 59,954

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

• Downloaded 11,616 times
• Download rankings, all-time:
  • Site-wide: 78 out of 59,954
  • In genomics: 22 out of 4,159
• Year to date:
  • Site-wide: 10 out of 59,954
• Since beginning of last month:
  • Site-wide: 29 out of 59,954

New mutations, old statistical challenges

• Downloaded 6,751 times
• Download rankings, all-time:
  • Site-wide: 221 out of 59,954
  • In genetics: 24 out of 3,412
• Year to date:
  • Site-wide: 15,544 out of 59,954
• Since beginning of last month:
  • Site-wide: 34,727 out of 59,954

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

• Downloaded 5,862 times
• Download rankings, all-time:
  • Site-wide: 290 out of 59,954
  • In genetics: 35 out of 3,412
• Year to date:
  • Site-wide: 109 out of 59,954
• Since beginning of last month:
  • Site-wide: 191 out of 59,954

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 5,001 times
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  • Site-wide: 380 out of 59,954
  • In genomics: 101 out of 4,159
• Year to date:
  • Site-wide: 887 out of 59,954
• Since beginning of last month:
  • Site-wide: 1,048 out of 59,954

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

• Downloaded 2,184 times
• Download rankings, all-time:
  • Site-wide: 1,822 out of 59,954
  • In genetics: 178 out of 3,412
• Year to date:
  • Site-wide: 24,062 out of 59,954
• Since beginning of last month:
  • Site-wide: 22,237 out of 59,954

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 2,120 times
• Download rankings, all-time:
  • Site-wide: 1,925 out of 59,954
  • In genomics: 426 out of 4,159
• Year to date:
  • Site-wide: 296 out of 59,954
• Since beginning of last month:
  • Site-wide: 897 out of 59,954

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,489 times
• Download rankings, all-time:
  • Site-wide: 3,524 out of 59,954
  • In genetics: 315 out of 3,412
• Year to date:
  • Site-wide: 11,637 out of 59,954
• Since beginning of last month:
  • Site-wide: 16,555 out of 59,954

Gene family information facilitates variant interpretation and identification of disease-associated genes

• Downloaded 1,341 times
• Download rankings, all-time:
  • Site-wide: 4,183 out of 59,954
  • In genetics: 352 out of 3,412
• Year to date:
  • Site-wide: 20,534 out of 59,954
• Since beginning of last month:
  • Site-wide: 29,032 out of 59,954

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

• Downloaded 1,298 times
• Download rankings, all-time:
  • Site-wide: 4,433 out of 59,954
  • In genetics: 372 out of 3,412
• Year to date:
  • Site-wide: 35,333 out of 59,954
• Since beginning of last month:
  • Site-wide: 37,897 out of 59,954

ASD and ADHD have a similar burden of rare protein-truncating variants

• Downloaded 1,140 times
• Download rankings, all-time:
  • Site-wide: 5,467 out of 59,954
  • In genetics: 444 out of 3,412
• Year to date:
  • Site-wide: 7,117 out of 59,954
• Since beginning of last month:
  • Site-wide: 7,995 out of 59,954

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities

• Downloaded 807 times
• Download rankings, all-time:
  • Site-wide: 9,499 out of 59,954
  • In cancer biology: 265 out of 1,962
• Year to date:
  • Site-wide: 1,847 out of 59,954
• Since beginning of last month:
  • Site-wide: 3,335 out of 59,954

Paternal-age-related de novo mutations and risk for five disorders

• Downloaded 720 times
• Download rankings, all-time:
  • Site-wide: 11,197 out of 59,954
  • In genetics: 804 out of 3,412
• Year to date:
  • Site-wide: 29,593 out of 59,954
• Since beginning of last month:
  • Site-wide: 26,193 out of 59,954

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 556 times
• Download rankings, all-time:
  • Site-wide: 15,995 out of 59,954
  • In genetics: 1,101 out of 3,412
• Year to date:
  • Site-wide: 7,797 out of 59,954
• Since beginning of last month:
  • Site-wide: 9,891 out of 59,954