Article

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

2018-10-13

Abstract excerpt

Copy number variants (CNVs) play a significant role in human heredity and disease, however sensitive and specific characterization of CNVs from NGS data has remained challenging. Detection is especially problematic for hybridization-capture data in which read counts are the sole source of copy number information. We describe two algorithmic adaptations that improve CNV detection accuracy in a Hidden Markov Model (...

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Literature Corpus work: 1c0c72ba-a61c-589e-a013-3ca077e91493
DOI: 10.1101/441378

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