Article
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.
The Journal of molecular diagnostics : JMD - 1 Jul 2024
Gao Bo, Jiang Yi, Han Mingyu, Ji Xiaowen, Zhang Dejun, Wu Lihua, Gao Xue, Huang Shasha, Zhao Chaoyue, Su Yu, Yang Suyan, Zhang Xin, Liu Na, Han Lu, Wang Lihai, Ren Lina, Yang Jinyuan, Wu Jian, Yuan Yongyi, Dai Pu
Abstract excerpt
Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. Additionally, the existing method can not be used for challenging genome loci (eg, copy number variations, deletions, inversions, or gene recombinants) or on families without proband genotype. This study assessed the performance of relative haplotype dosage analysis...
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