Author: Ryan L. Collins

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Preprints

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

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An open resource of structural variation for medical and population genetics

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

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  • In bioinformatics: 511 out of 8,837
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Indexcov: fast coverage quality control for whole-genome sequencing

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

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Functional annotation of rare structural variation in the human brain

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

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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

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