High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study

Sun, Y; Ye, XT; Fan, YJ; Wang, LL; Luo, XM; Liu, HL; Gao, XR; Gong, ZW; Wang, Y; Qiu, WJ; Zhang, HW; Han, LS; Liang, LL; Ye, H; Xiao, B; Gu, XF; Yu, YG

Sun, Y (corresponding author), Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab,Shanghai Ins, Room 803,Sci & Educ Bldg,Kongjiang Rd 1665, Shanghai 200092, Peoples R China.; Gu, XF; Yu, YG (corresponding author), Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab,Shanghai Ins, Room 801,Sci & Educ Bldg,Kongjiang Rd 1665, Shanghai, Peoples R China.

CLINICAL CHEMISTRY, 2020; 66 (3): 455

Abstract

BACKGROUND: Capture sequencing (CS) is widely applied to detect small genetic variations such as single nucleotide variants or indels. Algorithms base......

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