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Author: Kaitlin E. Samocha

Rankings

  • All-time downloads: 78,295 (rank: 491 out of 423,546)
  • Categories:
    • genetics: 19,679 (rank: 421 out of 37,726)
    • genomics: 58,616 (rank: 111 out of 44,201)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 22,459 times
  • Download rankings, all-time:
    • Site-wide: 69 out of 100,250
    • In genomics: 9 out of 6,218
  • Year to date:
    • Site-wide: 157 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

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

genomics more details view paper
  • Downloaded 21,775 times
  • Download rankings, all-time:
    • Site-wide: 73 out of 100,250
    • In genomics: 10 out of 6,218
  • Year to date:
    • Site-wide: 20,875 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

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

genetics more details view paper
  • Downloaded 9,257 times
  • Download rankings, all-time:
    • Site-wide: 295 out of 100,250
    • In genetics: 21 out of 4,997
  • Year to date:
    • Site-wide: 746 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 6,837 times
  • Download rankings, all-time:
    • Site-wide: 484 out of 100,250
    • In genomics: 99 out of 6,218
  • Year to date:
    • Site-wide: 1,369 out of 100,250
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    • Site-wide: None out of 100,250

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

genomics more details view paper
  • Downloaded 3,067 times
  • Download rankings, all-time:
    • Site-wide: 1,939 out of 100,250
    • In genomics: 379 out of 6,218
  • Year to date:
    • Site-wide: 949 out of 100,250
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    • Site-wide: None out of 100,250

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

genetics more details view paper
  • Downloaded 2,315 times
  • Download rankings, all-time:
    • Site-wide: 3,089 out of 100,250
    • In genetics: 233 out of 4,997
  • Year to date:
    • Site-wide: 64,207 out of 100,250
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    • Site-wide: None out of 100,250

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,621 times
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    • Site-wide: 5,570 out of 100,250
    • In genetics: 402 out of 4,997
  • Year to date:
    • Site-wide: 86,108 out of 100,250
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    • Site-wide: None out of 100,250

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

genetics more details view paper
  • Downloaded 1,536 times
  • Download rankings, all-time:
    • Site-wide: 6,121 out of 100,250
    • In genetics: 443 out of 4,997
  • Year to date:
    • Site-wide: 40,169 out of 100,250
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    • Site-wide: None out of 100,250

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

genetics more details view paper
  • Downloaded 1,388 times
  • Download rankings, all-time:
    • Site-wide: 7,224 out of 100,250
    • In genetics: 506 out of 4,997
  • Year to date:
    • Site-wide: 69,277 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,285 times
  • Download rankings, all-time:
    • Site-wide: 8,239 out of 100,250
    • In genomics: 1,241 out of 6,218
  • Year to date:
    • Site-wide: 71,366 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Sex-biased reduction in reproductive success drives selective constraint on human genes

genetics more details view paper
  • Downloaded 1,227 times
  • Download rankings, all-time:
    • Site-wide: 8,901 out of 100,250
    • In genetics: 612 out of 4,997
  • Year to date:
    • Site-wide: 1,492 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,105 times
  • Download rankings, all-time:
    • Site-wide: 10,590 out of 100,250
    • In genomics: 1,515 out of 6,218
  • Year to date:
    • Site-wide: 83,970 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

genomics more details view paper
  • Downloaded 1,050 times
  • Download rankings, all-time:
    • Site-wide: 11,530 out of 100,250
    • In genomics: 1,602 out of 6,218
  • Year to date:
    • Site-wide: 31,699 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,038 times
  • Download rankings, all-time:
    • Site-wide: 11,765 out of 100,250
    • In genomics: 1,627 out of 6,218
  • Year to date:
    • Site-wide: 93,726 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

genetics more details view paper
  • Downloaded 824 times
  • Download rankings, all-time:
    • Site-wide: 16,854 out of 100,250
    • In genetics: 1,063 out of 4,997
  • Year to date:
    • Site-wide: 93,441 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 775 times
  • Download rankings, all-time:
    • Site-wide: 18,555 out of 100,250
    • In genetics: 1,162 out of 4,997
  • Year to date:
    • Site-wide: 36,686 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 736 times
  • Download rankings, all-time:
    • Site-wide: 19,985 out of 100,250
    • In genetics: 1,245 out of 4,997
  • Year to date:
    • Site-wide: 53,590 out of 100,250
  • Since beginning of last month:
    • Site-wide: None out of 100,250

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