Author: Jack A. Kosmicki

Downloads per author, site-wide

Preprints

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

• Downloaded 24,880 times
• Download rankings, all-time:
  • Site-wide: 314
  • In genomics: 11
• Year to date:
  • Site-wide: 2,905
• Since beginning of last month:
  • Site-wide: 17,128

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

• Downloaded 22,118 times
• Download rankings, all-time:
  • Site-wide: 359
  • In genomics: 13
• Year to date:
  • Site-wide: 30,467
• Since beginning of last month:
  • Site-wide: 94,344

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

• Downloaded 10,415 times
• Download rankings, all-time:
  • Site-wide: 927
  • In genetics: 23
• Year to date:
  • Site-wide: 8,829
• Since beginning of last month:
  • Site-wide: 77,183

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 8,989 times
• Download rankings, all-time:
  • Site-wide: 1,105
  • In genomics: 81
• Year to date:
  • Site-wide: 2,105
• Since beginning of last month:
  • Site-wide: 17,452

New mutations, old statistical challenges

• Downloaded 7,183 times
• Download rankings, all-time:
  • Site-wide: 1,461
  • In genetics: 44
• Year to date:
  • Site-wide: 75,689
• Since beginning of last month:
  • Site-wide: 107,479

Computationally efficient whole genome regression for quantitative and binary traits

• Downloaded 6,215 times
• Download rankings, all-time:
  • Site-wide: 1,773
  • In genetics: 57
• Year to date:
  • Site-wide: 1,139
• Since beginning of last month:
  • Site-wide: 57,266

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 3,959 times
• Download rankings, all-time:
  • Site-wide: 3,321
  • In genomics: 341
• Year to date:
  • Site-wide: 23,285
• Since beginning of last month:
  • Site-wide: 9,594

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 2,551 times
• Download rankings, all-time:
  • Site-wide: 6,197
  • In genetic and genomic medicine: 27
• Year to date:
  • Site-wide: 1,361
• Since beginning of last month:
  • Site-wide: 28,800

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

• Downloaded 2,427 times
• Download rankings, all-time:
  • Site-wide: 6,668
  • In genetics: 292
• Year to date:
  • Site-wide: 86,403
• Since beginning of last month:
  • Site-wide: 22,838

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 2,014 times
• Download rankings, all-time:
  • Site-wide: 8,760
  • In genetics: 377
• Year to date:
  • Site-wide: 54,436
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 1,818 times
• Download rankings, all-time:
  • Site-wide: 10,189
  • In genetics: 450
• Year to date:
  • Site-wide: 44,810
• Since beginning of last month:
  • Site-wide: 94,183

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

• Downloaded 1,674 times
• Download rankings, all-time:
  • Site-wide: 11,502
  • In genetics: 515
• Year to date:
  • Site-wide: 100,272
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 1,658 times
• Download rankings, all-time:
  • Site-wide: 11,679
  • In cancer biology: 228
• Year to date:
  • Site-wide: 51,913
• Since beginning of last month:
  • Site-wide: 67,472

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

• Downloaded 1,489 times
• Download rankings, all-time:
  • Site-wide: 13,653
  • In genetics: 624
• Year to date:
  • Site-wide: 110,904
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 906 times
• Download rankings, all-time:
  • Site-wide: 28,489
  • In genetics: 1,304
• Year to date:
  • Site-wide: 98,914
• Since beginning of last month:
  • Site-wide: None

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 874 times
• Download rankings, all-time:
  • Site-wide: 29,957
  • In genetics: 1,369
• Year to date:
  • Site-wide: 100,011
• Since beginning of last month:
  • Site-wide: 108,143

ERAP1, ERAP2, and two copies of HLA-Aw19 alleles increase the risk for Birdshot Chorioretinopathy in HLA-A29 carriers

• Downloaded 92 times
• Download rankings, all-time:
  • Site-wide: 146,661
  • In ophthalmology: 157
• Year to date:
  • Site-wide: 72,189
• Since beginning of last month:
  • Site-wide: 64,417