Author: Jack A. Kosmicki

Downloads per author, site-wide

Preprints

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

• Downloaded 25,861 times
• Download rankings, all-time:
  • Site-wide: 402
  • In genomics: 11
• Year to date:
  • Site-wide: 4,803
• Since beginning of last month:
  • Site-wide: 4,858

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

• Downloaded 22,372 times
• Download rankings, all-time:
  • Site-wide: 470
  • In genomics: 13
• Year to date:
  • Site-wide: 32,486
• Since beginning of last month:
  • Site-wide: 36,612

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

• Downloaded 10,877 times
• Download rankings, all-time:
  • Site-wide: 1,154
  • In genetics: 23
• Year to date:
  • Site-wide: 13,088
• Since beginning of last month:
  • Site-wide: 8,538

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 10,681 times
• Download rankings, all-time:
  • Site-wide: 1,181
  • In genomics: 77
• Year to date:
  • Site-wide: 1,688
• Since beginning of last month:
  • Site-wide: 979

New mutations, old statistical challenges

• Downloaded 7,293 times
• Download rankings, all-time:
  • Site-wide: 1,889
  • In genetics: 44
• Year to date:
  • Site-wide: 117,671
• Since beginning of last month:
  • Site-wide: 146,556

Computationally efficient whole genome regression for quantitative and binary traits

• Downloaded 6,907 times
• Download rankings, all-time:
  • Site-wide: 2,046
  • In genetics: 55
• Year to date:
  • Site-wide: 8,826
• Since beginning of last month:
  • Site-wide: 5,991

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 4,478 times
• Download rankings, all-time:
  • Site-wide: 3,666
  • In genetic and genomic medicine: 16
• Year to date:
  • Site-wide: 2,868
• Since beginning of last month:
  • Site-wide: 2,727

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 4,076 times
• Download rankings, all-time:
  • Site-wide: 4,174
  • In genomics: 375
• Year to date:
  • Site-wide: 66,339
• Since beginning of last month:
  • Site-wide: 57,325

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

• Downloaded 2,795 times
• Download rankings, all-time:
  • Site-wide: 7,200
  • In genetic and genomic medicine: 51
• Year to date:
  • Site-wide: 408
• Since beginning of last month:
  • Site-wide: 1,295

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

• Downloaded 2,489 times
• Download rankings, all-time:
  • Site-wide: 8,565
  • In genetics: 324
• Year to date:
  • Site-wide: 99,416
• Since beginning of last month:
  • Site-wide: 132,666

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 2,165 times
• Download rankings, all-time:
  • Site-wide: 10,496
  • In genetics: 391
• Year to date:
  • Site-wide: 61,281
• Since beginning of last month:
  • Site-wide: 57,393

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

• Downloaded 2,008 times
• Download rankings, all-time:
  • Site-wide: 11,786
  • In genetics: 444
• Year to date:
  • Site-wide: 68,865
• Since beginning of last month:
  • Site-wide: 61,978

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

• Downloaded 1,808 times
• Download rankings, all-time:
  • Site-wide: 13,716
  • In genetics: 526
• Year to date:
  • Site-wide: 108,047
• Since beginning of last month:
  • Site-wide: 91,670

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

• Downloaded 1,759 times
• Download rankings, all-time:
  • Site-wide: 14,354
  • In cancer biology: 269
• Year to date:
  • Site-wide: 107,617
• Since beginning of last month:
  • Site-wide: 76,247

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

• Downloaded 1,563 times
• Download rankings, all-time:
  • Site-wide: 17,156
  • In genetics: 680
• Year to date:
  • Site-wide: 164,726
• Since beginning of last month:
  • Site-wide: 170,132

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 956 times
• Download rankings, all-time:
  • Site-wide: 36,296
  • In genetics: 1,439
• Year to date:
  • Site-wide: 145,470
• Since beginning of last month:
  • Site-wide: 132,615

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

• Downloaded 946 times
• Download rankings, all-time:
  • Site-wide: 36,890
  • In genetics: 1,455
• Year to date:
  • Site-wide: 153,586
• Since beginning of last month:
  • Site-wide: 175,015

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

• Downloaded 332 times
• Download rankings, all-time:
  • Site-wide: 128,659
  • In ophthalmology: 140
• Year to date:
  • Site-wide: 97,986
• Since beginning of last month:
  • Site-wide: 122,456