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Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics

Dong, ZR; Chau, MHK; Zhang, YY; Yang, ZJ; Shi, MM; Wah, YM; Kwok, YK; Leung, TY; Morton, CC; Choy, KW

Choy, KW (corresponding author), Chinese Univ Hong Kong, Dept Obstet & Gynaecol, Hong Kong, Peoples R China.; Choy, KW (corresponding author), Chinese Univ Hong Kong, Shenzhen Res Inst, Key Lab Regenerat Med, Minist Educ,Shenzhen Base, Shenzhen, Peoples R China.; Choy, KW (corresponding author), Chinese Univ Hong Kong, Hong Kong Hub Paediat Excellence, Hong Kong, Peoples R China.; Choy, KW (corresponding author), Chinese Univ Hong Kong, Baylor Coll Med Joint Ctr Med Genet, Hong Kong, Peoples R C

GENETICS IN MEDICINE, ; ():

Abstract

Purpose Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting m......

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