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Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families

Bo Gao,Yi Jiang,Mingyu Han,Xiaowen Ji,Dejun Zhang,Lihua Wu, Xue Gao,Shasha Huang,Chaoyue Zhao,Yu Su,Suyan Yang,Xin Zhang,Na Liu, Lu Han, Lihai Wang, Lina Ren,Jinyuan Yang,Jian Wu,Yongyi Yuan,Pu Dai

Journal of Molecular Diagnostics（2024）

Cited 0|Views35
Key words
autosomal recessive hearing loss,copy number variation,noninvasive prenatal diagnosis,recombination,relative haplotype dosage analysis
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