Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 52,310 bioRxiv papers from 242,606 authors.

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Preprints

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

• Downloaded 8,432 times
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  • Site-wide: 125 out of 52,319
  • In genomics: 41 out of 3,745
• Year to date:
  • Site-wide: 10 out of 52,319
• Since beginning of last month:
  • Site-wide: 51 out of 52,319

New mutations, old statistical challenges

• Downloaded 6,701 times
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  • Site-wide: 189 out of 52,319
  • In genetics: 19 out of 3,050
• Year to date:
  • Site-wide: 12,032 out of 52,319
• Since beginning of last month:
  • Site-wide: 20,838 out of 52,319

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

• Downloaded 4,880 times
• Download rankings, all-time:
  • Site-wide: 347 out of 52,319
  • In genetics: 40 out of 3,050
• Year to date:
  • Site-wide: 97 out of 52,319
• Since beginning of last month:
  • Site-wide: 135 out of 52,319

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 4,601 times
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  • Site-wide: 386 out of 52,319
  • In genomics: 106 out of 3,745
• Year to date:
  • Site-wide: 974 out of 52,319
• Since beginning of last month:
  • Site-wide: 1,316 out of 52,319

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

• Downloaded 2,133 times
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  • Site-wide: 1,651 out of 52,319
  • In genetics: 164 out of 3,050
• Year to date:
  • Site-wide: 21,433 out of 52,319
• Since beginning of last month:
  • Site-wide: 28,354 out of 52,319

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 1,670 times
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  • Site-wide: 2,511 out of 52,319
  • In genomics: 520 out of 3,745
• Year to date:
  • Site-wide: 234 out of 52,319
• Since beginning of last month:
  • Site-wide: 1,336 out of 52,319

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,396 times
• Download rankings, all-time:
  • Site-wide: 3,354 out of 52,319
  • In genetics: 310 out of 3,050
• Year to date:
  • Site-wide: 11,469 out of 52,319
• Since beginning of last month:
  • Site-wide: 10,797 out of 52,319

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

• Downloaded 1,258 times
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  • Site-wide: 3,979 out of 52,319
  • In genetics: 348 out of 3,050
• Year to date:
  • Site-wide: 31,806 out of 52,319
• Since beginning of last month:
  • Site-wide: 43,921 out of 52,319

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

• Downloaded 1,036 times
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  • Site-wide: 5,405 out of 52,319
  • In genetics: 458 out of 3,050
• Year to date:
  • Site-wide: 6,452 out of 52,319
• Since beginning of last month:
  • Site-wide: 7,259 out of 52,319

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

• Downloaded 673 times
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  • Site-wide: 10,411 out of 52,319
  • In genetics: 766 out of 3,050
• Year to date:
  • Site-wide: 26,972 out of 52,319
• Since beginning of last month:
  • Site-wide: 24,499 out of 52,319

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

• Downloaded 552 times
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  • Site-wide: 13,529 out of 52,319
  • In cancer biology: 384 out of 1,669
• Year to date:
  • Site-wide: 1,884 out of 52,319
• Since beginning of last month:
  • Site-wide: 4,879 out of 52,319

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 447 times
• Download rankings, all-time:
  • Site-wide: 17,623 out of 52,319
  • In genetics: 1,235 out of 3,050
• Year to date:
  • Site-wide: 7,537 out of 52,319
• Since beginning of last month:
  • Site-wide: 11,906 out of 52,319