Article

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

2022-04-05

Abstract excerpt

Long-read Structural Variation (SV) calling remains a challenging but highly accurate way to identify complex genomic alterations. Here, we present Sniffles2, which is faster and more accurate than state-of-the-art SV caller across different coverages, sequencing technologies, and SV types. Furthermore, Sniffles2 solves the problem of family- to population-level SV calling to produce fully genotyped VCF files by i...

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Literature Corpus work: a9d71bf1-d985-5f01-b452-18492aaec334
DOI: 10.1101/2022.04.04.487055

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