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Author: Jack A. Kosmicki

  • Most recently observed institution: Regeneron Genetics Center

Rankings

  • All-time downloads: 96,793 (rank: 1,354 )
  • Categories:
    • cancer biology: 1,644 (rank: 4,259 (tie) )
    • genetic and genomic medicine: 1,534 (rank: 1,783 (tie) )
    • genetics: 34,521 (rank: 159 )
    • genomics: 59,094 (rank: 141 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 24,660 times
  • Download rankings, all-time:
    • Site-wide: 285
    • In genomics: 10
  • Year to date:
    • Site-wide: 2,501
  • Since beginning of last month:
    • Site-wide: 2,677

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

genomics more details view paper
  • Downloaded 22,054 times
  • Download rankings, all-time:
    • Site-wide: 325
    • In genomics: 12
  • Year to date:
    • Site-wide: 29,935
  • Since beginning of last month:
    • Site-wide: 117,448

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

genetics more details view paper
  • Downloaded 10,311 times
  • Download rankings, all-time:
    • Site-wide: 838
    • In genetics: 23
  • Year to date:
    • Site-wide: 7,575
  • Since beginning of last month:
    • Site-wide: 11,545

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 8,491 times
  • Download rankings, all-time:
    • Site-wide: 1,063
    • In genomics: 88
  • Year to date:
    • Site-wide: 2,428
  • Since beginning of last month:
    • Site-wide: 3,127

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,156 times
  • Download rankings, all-time:
    • Site-wide: 1,328
    • In genetics: 43
  • Year to date:
    • Site-wide: 69,062
  • Since beginning of last month:
    • Site-wide: 42,633

Computationally efficient whole genome regression for quantitative and binary traits

genetics more details view paper
  • Downloaded 5,988 times
  • Download rankings, all-time:
    • Site-wide: 1,697
    • In genetics: 59
  • Year to date:
    • Site-wide: 836
  • Since beginning of last month:
    • Site-wide: 948

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,889 times
  • Download rankings, all-time:
    • Site-wide: 3,093
    • In genomics: 339
  • Year to date:
    • Site-wide: 22,078
  • Since beginning of last month:
    • Site-wide: 12,336

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

genetics more details view paper
  • Downloaded 2,395 times
  • Download rankings, all-time:
    • Site-wide: 6,227
    • In genetics: 282
  • Year to date:
    • Site-wide: 89,812
  • Since beginning of last month:
    • Site-wide: 83,470

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,000 times
  • Download rankings, all-time:
    • Site-wide: 8,081
    • In genetics: 364
  • Year to date:
    • Site-wide: 39,604
  • Since beginning of last month:
    • Site-wide: 23,796

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

genetics more details view paper
  • Downloaded 1,787 times
  • Download rankings, all-time:
    • Site-wide: 9,566
    • In genetics: 444
  • Year to date:
    • Site-wide: 36,594
  • Since beginning of last month:
    • Site-wide: 26,372

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

genetics more details view paper
  • Downloaded 1,657 times
  • Download rankings, all-time:
    • Site-wide: 10,684
    • In genetics: 495
  • Year to date:
    • Site-wide: 88,558
  • Since beginning of last month:
    • Site-wide: 117,053

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

cancer biology more details view paper
  • Downloaded 1,644 times
  • Download rankings, all-time:
    • Site-wide: 10,817
    • In cancer biology: 208
  • Year to date:
    • Site-wide: 37,413
  • Since beginning of last month:
    • Site-wide: 33,241

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 1,534 times
  • Download rankings, all-time:
    • Site-wide: 11,934
    • In genetic and genomic medicine: 46
  • Year to date:
    • Site-wide: 2,332
  • Since beginning of last month:
    • Site-wide: 6,257

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

genetics more details view paper
  • Downloaded 1,473 times
  • Download rankings, all-time:
    • Site-wide: 12,711
    • In genetics: 600
  • Year to date:
    • Site-wide: 99,986
  • Since beginning of last month:
    • Site-wide: 105,403

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

genetics more details view paper
  • Downloaded 895 times
  • Download rankings, all-time:
    • Site-wide: 26,564
    • In genetics: 1,251
  • Year to date:
    • Site-wide: 78,673
  • Since beginning of last month:
    • Site-wide: 59,717

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 859 times
  • Download rankings, all-time:
    • Site-wide: 28,155
    • In genetics: 1,337
  • Year to date:
    • Site-wide: 86,054
  • Since beginning of last month:
    • Site-wide: 59,988

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