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Author: Ryan L. Collins

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  • All-time downloads: 48,677 (rank: 730 out of 382,079)
  • Categories:
    • bioinformatics: 2,339 (rank: 4,477 (tie) out of 32,757)
    • genomics: 46,338 (rank: 134 out of 40,705)

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Preprints

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

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

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    • In genomics: 8 out of 5,693
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An open resource of structural variation for medical and population genetics

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    • Site-wide: 2,324 out of 89,147

Multi-platform discovery of haplotype-resolved structural variation in human genomes

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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

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    • Site-wide: 62,631 out of 89,147

CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

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    • In bioinformatics: 505 out of 8,418
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    • Site-wide: 16,992 out of 89,147

Indexcov: fast coverage quality control for whole-genome sequencing

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    • In genomics: 854 out of 5,693
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    • Site-wide: 22,229 out of 89,147

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

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    • Site-wide: 56,725 out of 89,147

Functional annotation of rare structural variation in the human brain

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    • In genomics: 1,638 out of 5,693
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    • Site-wide: 6,360 out of 89,147
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    • Site-wide: 7,152 out of 89,147

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