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Author: Jack A. Kosmicki

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

Rankings

  • All-time downloads: 87,316 (rank: 442 out of 426,414)
  • Categories:
    • cancer biology: 1,448 (rank: 3,466 (tie) out of 30,506)
    • genetics: 29,979 (rank: 172 out of 38,003)
    • genomics: 55,889 (rank: 119 out of 44,644)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 23,222 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 100,936
    • In genomics: 9 out of 6,255
  • Year to date:
    • Site-wide: 151 out of 100,936
  • Since beginning of last month:
    • Site-wide: 361 out of 100,936

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

genomics more details view paper
  • Downloaded 21,837 times
  • Download rankings, all-time:
    • Site-wide: 77 out of 100,936
    • In genomics: 10 out of 6,255
  • Year to date:
    • Site-wide: 18,742 out of 100,936
  • Since beginning of last month:
    • Site-wide: 24,124 out of 100,936

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

genetics more details view paper
  • Downloaded 9,569 times
  • Download rankings, all-time:
    • Site-wide: 303 out of 100,936
    • In genetics: 21 out of 5,022
  • Year to date:
    • Site-wide: 747 out of 100,936
  • Since beginning of last month:
    • Site-wide: 1,469 out of 100,936

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 7,203 times
  • Download rankings, all-time:
    • Site-wide: 479 out of 100,936
    • In genomics: 95 out of 6,255
  • Year to date:
    • Site-wide: 1,184 out of 100,936
  • Since beginning of last month:
    • Site-wide: 1,120 out of 100,936

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,025 times
  • Download rankings, all-time:
    • Site-wide: 504 out of 100,936
    • In genetics: 40 out of 5,022
  • Year to date:
    • Site-wide: 37,018 out of 100,936
  • Since beginning of last month:
    • Site-wide: 27,625 out of 100,936

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,627 times
  • Download rankings, all-time:
    • Site-wide: 1,538 out of 100,936
    • In genomics: 314 out of 6,255
  • Year to date:
    • Site-wide: 2,112 out of 100,936
  • Since beginning of last month:
    • Site-wide: 6,730 out of 100,936

Computationally efficient whole genome regression for quantitative and binary traits

genetics more details view paper
  • Downloaded 2,953 times
  • Download rankings, all-time:
    • Site-wide: 2,231 out of 100,936
    • In genetics: 163 out of 5,022
  • Year to date:
    • Site-wide: 533 out of 100,936
  • Since beginning of last month:
    • Site-wide: 341 out of 100,936

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

genetics more details view paper
  • Downloaded 2,333 times
  • Download rankings, all-time:
    • Site-wide: 3,262 out of 100,936
    • In genetics: 243 out of 5,022
  • Year to date:
    • Site-wide: 64,699 out of 100,936
  • Since beginning of last month:
    • Site-wide: 53,017 out of 100,936

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 1,852 times
  • Download rankings, all-time:
    • Site-wide: 4,808 out of 100,936
    • In genetics: 340 out of 5,022
  • Year to date:
    • Site-wide: 19,367 out of 100,936
  • Since beginning of last month:
    • Site-wide: 23,618 out of 100,936

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

genetics more details view paper
  • Downloaded 1,634 times
  • Download rankings, all-time:
    • Site-wide: 5,911 out of 100,936
    • In genetics: 415 out of 5,022
  • Year to date:
    • Site-wide: 17,570 out of 100,936
  • Since beginning of last month:
    • Site-wide: 21,672 out of 100,936

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

genetics more details view paper
  • Downloaded 1,586 times
  • Download rankings, all-time:
    • Site-wide: 6,219 out of 100,936
    • In genetics: 439 out of 5,022
  • Year to date:
    • Site-wide: 33,932 out of 100,936
  • Since beginning of last month:
    • Site-wide: 27,627 out of 100,936

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

cancer biology more details view paper
  • Downloaded 1,448 times
  • Download rankings, all-time:
    • Site-wide: 7,235 out of 100,936
    • In cancer biology: 194 out of 3,615
  • Year to date:
    • Site-wide: 9,212 out of 100,936
  • Since beginning of last month:
    • Site-wide: 23,712 out of 100,936

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

genetics more details view paper
  • Downloaded 1,401 times
  • Download rankings, all-time:
    • Site-wide: 7,667 out of 100,936
    • In genetics: 524 out of 5,022
  • Year to date:
    • Site-wide: 72,020 out of 100,936
  • Since beginning of last month:
    • Site-wide: 79,811 out of 100,936

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

genetics more details view paper
  • Downloaded 834 times
  • Download rankings, all-time:
    • Site-wide: 17,860 out of 100,936
    • In genetics: 1,114 out of 5,022
  • Year to date:
    • Site-wide: 71,317 out of 100,936
  • Since beginning of last month:
    • Site-wide: 94,980 out of 100,936

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 792 times
  • Download rankings, all-time:
    • Site-wide: 19,376 out of 100,936
    • In genetics: 1,209 out of 5,022
  • Year to date:
    • Site-wide: 40,251 out of 100,936
  • Since beginning of last month:
    • Site-wide: 58,412 out of 100,936

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