Author: Jack A. Kosmicki

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

• Downloaded 24,660 times
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  • Site-wide: 285
  • In genomics: 10
• Year to date:
  • Site-wide: 2,501
• Since beginning of last month:
  • Site-wide: 2,677

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

• Downloaded 22,054 times
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  • Site-wide: 325
  • In genomics: 12
• Year to date:
  • Site-wide: 29,935
• Since beginning of last month:
  • Site-wide: 117,448

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

• Downloaded 10,311 times
• Download rankings, all-time:
  • Site-wide: 838
  • In genetics: 23
• Year to date:
  • Site-wide: 7,575
• Since beginning of last month:
  • Site-wide: 11,545

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 8,491 times
• Download rankings, all-time:
  • Site-wide: 1,063
  • In genomics: 88
• Year to date:
  • Site-wide: 2,428
• Since beginning of last month:
  • Site-wide: 3,127

New mutations, old statistical challenges

• Downloaded 7,156 times
• Download rankings, all-time:
  • Site-wide: 1,328
  • In genetics: 43
• Year to date:
  • Site-wide: 69,062
• Since beginning of last month:
  • Site-wide: 42,633

Computationally efficient whole genome regression for quantitative and binary traits

• Downloaded 5,988 times
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  • Site-wide: 1,697
  • In genetics: 59
• Year to date:
  • Site-wide: 836
• Since beginning of last month:
  • Site-wide: 948

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 3,889 times
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  • Site-wide: 3,093
  • In genomics: 339
• Year to date:
  • Site-wide: 22,078
• Since beginning of last month:
  • Site-wide: 12,336

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

• Downloaded 2,395 times
• Download rankings, all-time:
  • Site-wide: 6,227
  • In genetics: 282
• Year to date:
  • Site-wide: 89,812
• Since beginning of last month:
  • Site-wide: 83,470

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 2,000 times
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  • Site-wide: 8,081
  • In genetics: 364
• Year to date:
  • Site-wide: 39,604
• Since beginning of last month:
  • Site-wide: 23,796

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

• Downloaded 1,787 times
• Download rankings, all-time:
  • Site-wide: 9,566
  • In genetics: 444
• Year to date:
  • Site-wide: 36,594
• Since beginning of last month:
  • Site-wide: 26,372

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

• Downloaded 1,657 times
• Download rankings, all-time:
  • Site-wide: 10,684
  • In genetics: 495
• Year to date:
  • Site-wide: 88,558
• Since beginning of last month:
  • Site-wide: 117,053

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

• Downloaded 1,644 times
• Download rankings, all-time:
  • Site-wide: 10,817
  • In cancer biology: 208
• Year to date:
  • Site-wide: 37,413
• Since beginning of last month:
  • Site-wide: 33,241

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

• Downloaded 1,534 times
• Download rankings, all-time:
  • Site-wide: 11,934
  • In genetic and genomic medicine: 46
• Year to date:
  • Site-wide: 2,332
• Since beginning of last month:
  • Site-wide: 6,257

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

• Downloaded 1,473 times
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  • Site-wide: 12,711
  • In genetics: 600
• Year to date:
  • Site-wide: 99,986
• Since beginning of last month:
  • Site-wide: 105,403

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

• Downloaded 895 times
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  • Site-wide: 26,564
  • In genetics: 1,251
• Year to date:
  • Site-wide: 78,673
• Since beginning of last month:
  • Site-wide: 59,717

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 859 times
• Download rankings, all-time:
  • Site-wide: 28,155
  • In genetics: 1,337
• Year to date:
  • Site-wide: 86,054
• Since beginning of last month:
  • Site-wide: 59,988