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Author: Jack A. Kosmicki

  • Most recently observed institution: Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA

Rankings

  • All-time downloads: 99,262 (rank: 1,451 )
  • Categories:
    • cancer biology: 1,658 (rank: 4,779 (tie) )
    • genetic and genomic medicine: 2,551 (rank: 1,328 (tie) )
    • genetics: 35,015 (rank: 160 )
    • genomics: 59,946 (rank: 153 )
    • ophthalmology: 92 (rank: 805 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • 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

genomics more details view paper
  • 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

genetics more details view paper
  • 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

genomics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genomics more details view paper
  • 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

genetic and genomic medicine more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

cancer biology more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

ophthalmology more details view paper
  • 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

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