Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis

Lue, Y; Jiang, YL; Zhou, XY; Hao, N; Lue, GZ; Guo, XX; Guo, RD; Liu, WJ; Xu, CL; Chang, JZ; Li, MM; Zhang, HZ; Zhou, J; Zhang, W; Qi, QW

Qi, QW (通讯作者)，Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Obstet & Gynecol, Beijing 100730, Peoples R China.

DIAGNOSTICS, 2023; 13 (3):

Abstract

Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting me......

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