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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,745 bioRxiv papers from 278,406 authors.

Author: Kaitlin E. Samocha

Rankings

  • All-time downloads: 56,962 (rank: 215 out of 278,406)
  • Categories:
    • genetics: 14,574 (rank: 603 out of 27,721)
    • genomics: 42,388 (rank: 123 out of 31,945)

Downloads per author, site-wide

Preprints

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

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No bioRxiv download data for this paper yet.

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

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  • Downloaded 21,445 times
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    • In genomics: 6 out of 4,316
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    • Site-wide: 3,289 out of 62,745
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    • Site-wide: 3,953 out of 62,745

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

genomics more details view paper
  • Downloaded 12,643 times
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    • Site-wide: 69 out of 62,745
    • In genomics: 20 out of 4,316
  • Year to date:
    • Site-wide: 9 out of 62,745
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    • Site-wide: 26 out of 62,745

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

genetics more details view paper
  • Downloaded 6,234 times
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    • Site-wide: 266 out of 62,745
    • In genetics: 29 out of 3,562
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    • Site-wide: 107 out of 62,745
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    • Site-wide: 174 out of 62,745

Regional missense constraint improves variant deleteriousness prediction

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  • Downloaded 5,116 times
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    • In genomics: 101 out of 4,316
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    • Site-wide: 2,043 out of 62,745

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

genetics more details view paper
  • Downloaded 2,198 times
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    • In genetics: 182 out of 3,562
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    • Site-wide: 24,312 out of 62,745

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

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  • Downloaded 1,540 times
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    • In genetics: 304 out of 3,562
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    • Site-wide: 27,064 out of 62,745

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

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  • Downloaded 1,362 times
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    • In genetics: 361 out of 3,562
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    • Site-wide: 22,589 out of 62,745

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

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    • In genetics: 384 out of 3,562
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    • Site-wide: 58,719 out of 62,745

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

genomics more details view paper
  • Downloaded 1,177 times
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    • In genomics: 922 out of 4,316
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    • Site-wide: 53,956 out of 62,745

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

genomics more details view paper
  • Downloaded 1,032 times
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    • In genomics: 1,098 out of 4,316
  • Year to date:
    • Site-wide: 50,579 out of 62,745
  • Since beginning of last month:
    • Site-wide: 57,224 out of 62,745

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

genomics more details view paper
  • Downloaded 975 times
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    • In genomics: 1,177 out of 4,316
  • Year to date:
    • Site-wide: 48,063 out of 62,745
  • Since beginning of last month:
    • Site-wide: 57,171 out of 62,745

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 769 times
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    • In genetics: 766 out of 3,562
  • Year to date:
    • Site-wide: 58,518 out of 62,745
  • Since beginning of last month:
    • Site-wide: 59,624 out of 62,745

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 597 times
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    • In genetics: 1,057 out of 3,562
  • Year to date:
    • Site-wide: 10,093 out of 62,745
  • Since beginning of last month:
    • Site-wide: 20,379 out of 62,745

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 573 times
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    • Site-wide: 16,082 out of 62,745
    • In genetics: 1,104 out of 3,562
  • Year to date:
    • Site-wide: 8,378 out of 62,745
  • Since beginning of last month:
    • Site-wide: 20,647 out of 62,745

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