A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Jianchao ZhengHongyun ZhangSantasree BanerjeeYun LiJunyu ZhouQian YangXuemei TanPeng HanQinmei FuXiaoli CuiYuying YuanMeiyan ZhangRuiqin ShenHaifeng SongXiuqing ZhangLijian ZhaoZhiyu PengWei WangYe Yin

Published in: Molecular genetics & genomic medicine (2019)

Considering of the above comprehensive assessment, a new variant with high quality from a well-validated capture-based NGS workflow can be reported directly without validation.

Keyphrases

copy number
gene expression
genome wide