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Author: Kaitlin E. Samocha

Rankings

  • All-time downloads: 76,047 (rank: 476 out of 381,571)
  • Categories:
    • genetics: 19,010 (rank: 425 out of 35,276)
    • genomics: 57,037 (rank: 112 out of 40,683)

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Preprints

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

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

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

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Regional missense constraint improves variant deleteriousness prediction

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

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

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

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

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

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

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

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    • Site-wide: 78,072 out of 89,008

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

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  • Downloaded 1,032 times
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    • In genomics: 1,555 out of 5,673
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    • Site-wide: 26,174 out of 89,008
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    • Site-wide: 36,728 out of 89,008

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

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    • In genomics: 1,553 out of 5,673
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    • Site-wide: 83,649 out of 89,008

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

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    • In genetics: 914 out of 4,605
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    • Site-wide: 1,717 out of 89,008
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    • Site-wide: 1,097 out of 89,008

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

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    • Site-wide: 86,767 out of 89,008

Schizophrenia risk conferred by protein-coding de novo mutations

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    • Site-wide: 38,572 out of 89,008

Contribution of Retrotransposition to Developmental Disorders

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