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Author: Jack A. Kosmicki

  • Most recently observed institution: Regeneron Genetics Center

Rankings

  • All-time downloads: 109,366 (rank: 1,696 )
  • Categories:
    • cancer biology: 1,733 (rank: 5,912 (tie) )
    • genetic and genomic medicine: 6,211 (rank: 349 (tie) )
    • genetics: 36,431 (rank: 172 )
    • genomics: 61,857 (rank: 171 )
    • ophthalmology: 309 (rank: 784 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • 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

genomics more details view paper
  • 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

genetics more details view paper
  • 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

genomics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetic and genomic medicine more details view paper
  • 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

genomics more details view paper
  • 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

genetic and genomic medicine more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

cancer biology more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

genetics more details view paper
  • 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

ophthalmology more details view paper
  • 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

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