Author: Jack A. Kosmicki

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Preprints

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

• Downloaded 26,264 times
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  • Site-wide: 411
  • In genomics: 12
• Year to date:
  • Site-wide: 3,993
• Since beginning of last month:
  • Site-wide: 3,393

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

• Downloaded 22,453 times
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  • Site-wide: 497
  • In genomics: 16
• Year to date:
  • Site-wide: 40,114
• Since beginning of last month:
  • Site-wide: 63,945

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 11,373 times
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  • Site-wide: 1,156
  • In genomics: 74
• Year to date:
  • Site-wide: 1,507
• Since beginning of last month:
  • Site-wide: 1,236

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

• Downloaded 11,044 times
• Download rankings, all-time:
  • Site-wide: 1,205
  • In genetics: 24
• Year to date:
  • Site-wide: 13,888
• Since beginning of last month:
  • Site-wide: 16,627

New mutations, old statistical challenges

• Downloaded 7,328 times
• Download rankings, all-time:
  • Site-wide: 2,016
  • In genetics: 47
• Year to date:
  • Site-wide: 131,081
• Since beginning of last month:
  • Site-wide: 86,323

Computationally efficient whole genome regression for quantitative and binary traits

• Downloaded 7,148 times
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  • Site-wide: 2,104
  • In genetics: 54
• Year to date:
  • Site-wide: 8,374
• Since beginning of last month:
  • Site-wide: 10,217

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 4,816 times
• Download rankings, all-time:
  • Site-wide: 3,590
  • In genetic and genomic medicine: 16
• Year to date:
  • Site-wide: 3,157
• Since beginning of last month:
  • Site-wide: 17,278

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 4,126 times
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  • Site-wide: 4,457
  • In genomics: 399
• Year to date:
  • Site-wide: 80,590
• Since beginning of last month:
  • Site-wide: 58,814

Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes

• Downloaded 3,375 times
• Download rankings, all-time:
  • Site-wide: 5,991
  • In genetic and genomic medicine: 34
• Year to date:
  • Site-wide: 548
• Since beginning of last month:
  • Site-wide: 4,650

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

• Downloaded 2,520 times
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  • Site-wide: 9,173
  • In genetics: 346
• Year to date:
  • Site-wide: 124,159
• Since beginning of last month:
  • Site-wide: 174,197

De novo Variants In Neurodevelopmental Disorders With Epilepsy

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  • Site-wide: 10,712
  • In genetics: 414
• Year to date:
  • Site-wide: 49,956
• Since beginning of last month:
  • Site-wide: 14,798

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

• Downloaded 2,073 times
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  • Site-wide: 12,333
  • In genetics: 455
• Year to date:
  • Site-wide: 73,547
• Since beginning of last month:
  • Site-wide: 32,774

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

• Downloaded 1,852 times
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  • Site-wide: 14,643
  • In genetics: 571
• Year to date:
  • Site-wide: 112,299
• Since beginning of last month:
  • Site-wide: 65,240

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

• Downloaded 1,792 times
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  • Site-wide: 15,417
  • In cancer biology: 298
• Year to date:
  • Site-wide: 127,826
• Since beginning of last month:
  • Site-wide: 85,827

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

• Downloaded 1,600 times
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  • Site-wide: 18,375
  • In genetics: 731
• Year to date:
  • Site-wide: 154,293
• Since beginning of last month:
  • Site-wide: 53,256

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 990 times
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  • Site-wide: 38,975
  • In genetics: 1,536
• Year to date:
  • Site-wide: 149,838
• Since beginning of last month:
  • Site-wide: 111,965

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

• Downloaded 970 times
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  • Site-wide: 40,212
  • In genetics: 1,576
• Year to date:
  • Site-wide: 175,994
• Since beginning of last month:
  • Site-wide: 117,265

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

• Downloaded 835 times
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  • Site-wide: 50,658
  • In infectious diseases: 4,378
• Year to date:
  • Site-wide: 4,589
• Since beginning of last month:
  • Site-wide: 10,886

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

• Downloaded 361 times
• Download rankings, all-time:
  • Site-wide: 136,274
  • In ophthalmology: 146
• Year to date:
  • Site-wide: 125,337
• Since beginning of last month:
  • Site-wide: 93,615