discordant read-pair analysis

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis
Bo Zhou, Steve S Ho, Xianglong Zhang, Reenal Pattni, Rajini R Haraksingh, Alexander E Urban

Journal of Medical Genetics Nov 2018, 55 (11) 735-743; DOI: 10.1136/jmedgenet-2018-105272

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discordant read-pair analysis