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Author: Jack A. Kosmicki

  • Most recently observed institution: Regeneron Genetics Center

Rankings

  • All-time downloads: 92,659 (rank: 1,253 )
  • Categories:
    • cancer biology: 1,573 (rank: 3,676 (tie) )
    • genetic and genomic medicine: 887 (rank: 2,005 (tie) )
    • genetics: 32,556 (rank: 162 )
    • genomics: 57,643 (rank: 131 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 24,074 times
  • Download rankings, all-time:
    • Site-wide: 260
    • In genomics: 10
  • Year to date:
    • Site-wide: 2,317
  • Since beginning of last month:
    • Site-wide: 2,317

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

genomics more details view paper
  • Downloaded 21,936 times
  • Download rankings, all-time:
    • Site-wide: 289
    • In genomics: 11
  • Year to date:
    • Site-wide: 41,708
  • Since beginning of last month:
    • Site-wide: 41,708

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

genetics more details view paper
  • Downloaded 10,109 times
  • Download rankings, all-time:
    • Site-wide: 737
    • In genetics: 22
  • Year to date:
    • Site-wide: 3,850
  • Since beginning of last month:
    • Site-wide: 3,850

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 7,854 times
  • Download rankings, all-time:
    • Site-wide: 1,015
    • In genomics: 97
  • Year to date:
    • Site-wide: 2,849
  • Since beginning of last month:
    • Site-wide: 2,849

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,115 times
  • Download rankings, all-time:
    • Site-wide: 1,154
    • In genetics: 40
  • Year to date:
    • Site-wide: 57,226
  • Since beginning of last month:
    • Site-wide: 57,226

Computationally efficient whole genome regression for quantitative and binary traits

genetics more details view paper
  • Downloaded 4,540 times
  • Download rankings, all-time:
    • Site-wide: 2,112
    • In genetics: 82
  • Year to date:
    • Site-wide: 1,011
  • Since beginning of last month:
    • Site-wide: 1,011

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,779 times
  • Download rankings, all-time:
    • Site-wide: 2,739
    • In genomics: 325
  • Year to date:
    • Site-wide: 13,654
  • Since beginning of last month:
    • Site-wide: 13,654

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

genetics more details view paper
  • Downloaded 2,367 times
  • Download rankings, all-time:
    • Site-wide: 5,424
    • In genetics: 261
  • Year to date:
    • Site-wide: 72,305
  • Since beginning of last month:
    • Site-wide: 72,305

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 1,934 times
  • Download rankings, all-time:
    • Site-wide: 7,237
    • In genetics: 351
  • Year to date:
    • Site-wide: 24,700
  • Since beginning of last month:
    • Site-wide: 24,700

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

genetics more details view paper
  • Downloaded 1,719 times
  • Download rankings, all-time:
    • Site-wide: 8,671
    • In genetics: 430
  • Year to date:
    • Site-wide: 21,645
  • Since beginning of last month:
    • Site-wide: 21,645

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

genetics more details view paper
  • Downloaded 1,635 times
  • Download rankings, all-time:
    • Site-wide: 9,377
    • In genetics: 464
  • Year to date:
    • Site-wide: 51,852
  • Since beginning of last month:
    • Site-wide: 51,852

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

cancer biology more details view paper
  • Downloaded 1,573 times
  • Download rankings, all-time:
    • Site-wide: 9,912
    • In cancer biology: 190
  • Year to date:
    • Site-wide: 24,053
  • Since beginning of last month:
    • Site-wide: 24,053

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

genetics more details view paper
  • Downloaded 1,451 times
  • Download rankings, all-time:
    • Site-wide: 11,118
    • In genetics: 553
  • Year to date:
    • Site-wide: 77,395
  • Since beginning of last month:
    • Site-wide: 77,395

Common genetic variants identify therapeutic targets for COVID-19 and individuals at high risk of severe disease

genetic and genomic medicine more details view paper
  • Downloaded 887 times
  • Download rankings, all-time:
    • Site-wide: 23,175
    • In genetic and genomic medicine: 70
  • Year to date:
    • Site-wide: 2,615
  • Since beginning of last month:
    • Site-wide: 2,615

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

genetics more details view paper
  • Downloaded 859 times
  • Download rankings, all-time:
    • Site-wide: 24,239
    • In genetics: 1,203
  • Year to date:
    • Site-wide: 72,218
  • Since beginning of last month:
    • Site-wide: 72,218

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 827 times
  • Download rankings, all-time:
    • Site-wide: 25,570
    • In genetics: 1,272
  • Year to date:
    • Site-wide: 78,050
  • Since beginning of last month:
    • Site-wide: 78,050

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