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Author: Jack A. Kosmicki

  • Most recently observed institution: Regeneron

Rankings

  • All-time downloads: 113,195 (rank: 1,697 )
  • Categories:
    • cancer biology: 1,768 (rank: 6,740 (tie) )
    • genetic and genomic medicine: 7,778 (rank: 327 (tie) )
    • genetics: 37,234 (rank: 181 )
    • genomics: 63,320 (rank: 198 )
    • infectious diseases: 642 (rank: 46,301 (tie) )
    • ophthalmology: 340 (rank: 814 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 3,993
  • Since beginning of last month:
    • Site-wide: 3,393

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

genomics more details view paper
  • Downloaded 22,453 times
  • Download rankings, all-time:
    • Site-wide: 497
    • In genomics: 16
  • Year to date:
    • Site-wide: 40,114
  • Since beginning of last month:
    • Site-wide: 63,945

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 11,373 times
  • Download rankings, all-time:
    • Site-wide: 1,156
    • In genomics: 74
  • Year to date:
    • Site-wide: 1,507
  • Since beginning of last month:
    • Site-wide: 1,236

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

genetics more details view paper
  • Downloaded 11,044 times
  • Download rankings, all-time:
    • Site-wide: 1,205
    • In genetics: 24
  • Year to date:
    • Site-wide: 13,888
  • Since beginning of last month:
    • Site-wide: 16,627

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,328 times
  • Download rankings, all-time:
    • Site-wide: 2,016
    • In genetics: 47
  • Year to date:
    • Site-wide: 131,081
  • Since beginning of last month:
    • Site-wide: 86,323

Computationally efficient whole genome regression for quantitative and binary traits

genetics more details view paper
  • Downloaded 7,148 times
  • Download rankings, all-time:
    • Site-wide: 2,104
    • In genetics: 54
  • Year to date:
    • Site-wide: 8,374
  • Since beginning of last month:
    • Site-wide: 10,217

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 4,816 times
  • Download rankings, all-time:
    • Site-wide: 3,590
    • In genetic and genomic medicine: 16
  • Year to date:
    • Site-wide: 3,157
  • Since beginning of last month:
    • Site-wide: 17,278

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,126 times
  • Download rankings, all-time:
    • Site-wide: 4,457
    • In genomics: 399
  • Year to date:
    • Site-wide: 80,590
  • Since beginning of last month:
    • Site-wide: 58,814

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 3,375 times
  • Download rankings, all-time:
    • Site-wide: 5,991
    • In genetic and genomic medicine: 34
  • Year to date:
    • Site-wide: 548
  • Since beginning of last month:
    • Site-wide: 4,650

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

genetics more details view paper
  • Downloaded 2,520 times
  • Download rankings, all-time:
    • Site-wide: 9,173
    • In genetics: 346
  • Year to date:
    • Site-wide: 124,159
  • Since beginning of last month:
    • Site-wide: 174,197

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,275 times
  • Download rankings, all-time:
    • Site-wide: 10,712
    • In genetics: 414
  • Year to date:
    • Site-wide: 49,956
  • Since beginning of last month:
    • Site-wide: 14,798

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

genetics more details view paper
  • Downloaded 2,073 times
  • Download rankings, all-time:
    • Site-wide: 12,333
    • In genetics: 455
  • Year to date:
    • Site-wide: 73,547
  • Since beginning of last month:
    • Site-wide: 32,774

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

genetics more details view paper
  • Downloaded 1,852 times
  • Download rankings, all-time:
    • Site-wide: 14,643
    • In genetics: 571
  • Year to date:
    • Site-wide: 112,299
  • Since beginning of last month:
    • Site-wide: 65,240

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

cancer biology more details view paper
  • Downloaded 1,792 times
  • Download rankings, all-time:
    • Site-wide: 15,417
    • In cancer biology: 298
  • Year to date:
    • Site-wide: 127,826
  • Since beginning of last month:
    • Site-wide: 85,827

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

genetics more details view paper
  • Downloaded 1,600 times
  • Download rankings, all-time:
    • Site-wide: 18,375
    • In genetics: 731
  • Year to date:
    • Site-wide: 154,293
  • Since beginning of last month:
    • Site-wide: 53,256

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 990 times
  • Download rankings, all-time:
    • Site-wide: 38,975
    • In genetics: 1,536
  • Year to date:
    • Site-wide: 149,838
  • Since beginning of last month:
    • Site-wide: 111,965

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

genetics more details view paper
  • Downloaded 970 times
  • Download rankings, all-time:
    • Site-wide: 40,212
    • In genetics: 1,576
  • Year to date:
    • Site-wide: 175,994
  • Since beginning of last month:
    • Site-wide: 117,265

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

infectious diseases more details view paper
  • Downloaded 835 times
  • Download rankings, all-time:
    • Site-wide: 50,658
    • In infectious diseases: 4,378
  • Year to date:
    • Site-wide: 4,589
  • Since beginning of last month:
    • Site-wide: 10,886

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 361 times
  • Download rankings, all-time:
    • Site-wide: 136,274
    • In ophthalmology: 146
  • Year to date:
    • Site-wide: 125,337
  • Since beginning of last month:
    • Site-wide: 93,615

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