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Article

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.

Nature communications - 10 Jun 2020

Jakubosky David, Smith Erin N, D'Antonio Matteo, Jan Bonder Marc, Young Greenwald William W, D'Antonio-Chronowska Agnieszka, Matsui Hiroko, Stegle Oliver, Montgomery Stephen B, DeBoever Christopher, Frazer Kelly A

Abstract excerpt

Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic diversity but are not routinely analyzed in genetic studies because they are difficult to accurately identify and genotype. Because SVs and STRs range in size and type, it is necessary to apply multiple algorithms that incorporate different types of evidence from sequencing data and employ complex filtering strategies to...

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PMID: 32522985
DOI: 10.1038/s41467-020-16481-5
PMCID: PMC7287045

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