Rxivist logo

Author: Jack A. Kosmicki

  • Most recently observed institution: Program in Bioinformatics and Integrative Genomics, Harvard Medical School

Rankings

  • All-time downloads: 79,314 (rank: 416 out of 360,922)
  • Categories:
    • cancer biology: 1,262 (rank: 3,282 (tie) out of 24,519)
    • genetics: 25,692 (rank: 202 out of 33,900)
    • genomics: 52,360 (rank: 117 out of 39,074)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,713 times
  • Download rankings, all-time:
    • Site-wide: 55 out of 83,820
    • In genomics: 8 out of 5,409
  • Year to date:
    • Site-wide: 16,378 out of 83,820
  • Since beginning of last month:
    • Site-wide: 9,842 out of 83,820

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

genomics more details view paper
  • Downloaded 21,086 times
  • Download rankings, all-time:
    • Site-wide: 60 out of 83,820
    • In genomics: 9 out of 5,409
  • Year to date:
    • Site-wide: 122 out of 83,820
  • Since beginning of last month:
    • Site-wide: 141 out of 83,820

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

genetics more details view paper
  • Downloaded 8,788 times
  • Download rankings, all-time:
    • Site-wide: 274 out of 83,820
    • In genetics: 21 out of 4,399
  • Year to date:
    • Site-wide: 543 out of 83,820
  • Since beginning of last month:
    • Site-wide: 1,459 out of 83,820

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,949 times
  • Download rankings, all-time:
    • Site-wide: 392 out of 83,820
    • In genetics: 32 out of 4,399
  • Year to date:
    • Site-wide: 32,206 out of 83,820
  • Since beginning of last month:
    • Site-wide: 43,576 out of 83,820

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 6,349 times
  • Download rankings, all-time:
    • Site-wide: 452 out of 83,820
    • In genomics: 96 out of 5,409
  • Year to date:
    • Site-wide: 1,279 out of 83,820
  • Since beginning of last month:
    • Site-wide: 1,904 out of 83,820

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,212 times
  • Download rankings, all-time:
    • Site-wide: 1,498 out of 83,820
    • In genomics: 315 out of 5,409
  • Year to date:
    • Site-wide: 1,458 out of 83,820
  • Since beginning of last month:
    • Site-wide: 2,570 out of 83,820

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

genetics more details view paper
  • Downloaded 2,286 times
  • Download rankings, all-time:
    • Site-wide: 2,712 out of 83,820
    • In genetics: 216 out of 4,399
  • Year to date:
    • Site-wide: 57,821 out of 83,820
  • Since beginning of last month:
    • Site-wide: 56,881 out of 83,820

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 1,730 times
  • Download rankings, all-time:
    • Site-wide: 4,296 out of 83,820
    • In genetics: 322 out of 4,399
  • Year to date:
    • Site-wide: 17,195 out of 83,820
  • Since beginning of last month:
    • Site-wide: 14,911 out of 83,820

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

genetics more details view paper
  • Downloaded 1,514 times
  • Download rankings, all-time:
    • Site-wide: 5,372 out of 83,820
    • In genetics: 408 out of 4,399
  • Year to date:
    • Site-wide: 14,301 out of 83,820
  • Since beginning of last month:
    • Site-wide: 15,421 out of 83,820

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

genetics more details view paper
  • Downloaded 1,505 times
  • Download rankings, all-time:
    • Site-wide: 5,414 out of 83,820
    • In genetics: 414 out of 4,399
  • Year to date:
    • Site-wide: 29,147 out of 83,820
  • Since beginning of last month:
    • Site-wide: 43,952 out of 83,820

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

genetics more details view paper
  • Downloaded 1,365 times
  • Download rankings, all-time:
    • Site-wide: 6,386 out of 83,820
    • In genetics: 468 out of 4,399
  • Year to date:
    • Site-wide: 59,364 out of 83,820
  • Since beginning of last month:
    • Site-wide: 51,763 out of 83,820

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

cancer biology more details view paper
  • Downloaded 1,262 times
  • Download rankings, all-time:
    • Site-wide: 7,263 out of 83,820
    • In cancer biology: 200 out of 2,924
  • Year to date:
    • Site-wide: 7,410 out of 83,820
  • Since beginning of last month:
    • Site-wide: 8,547 out of 83,820

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

genetics more details view paper
  • Downloaded 810 times
  • Download rankings, all-time:
    • Site-wide: 14,732 out of 83,820
    • In genetics: 956 out of 4,399
  • Year to date:
    • Site-wide: 47,514 out of 83,820
  • Since beginning of last month:
    • Site-wide: 54,268 out of 83,820

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 745 times
  • Download rankings, all-time:
    • Site-wide: 16,817 out of 83,820
    • In genetics: 1,097 out of 4,399
  • Year to date:
    • Site-wide: 25,747 out of 83,820
  • Since beginning of last month:
    • Site-wide: 27,479 out of 83,820

PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News