Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles

In this project, RHDO-based targeted linked-read sequencing was applied to families in which both husbands and wives were carriers of GJB2 or SLC26A4 pathogenic variants and at risk of having babies with ARNSHL, including SNVs (single nucleotide variations), InDels (insertions or deletions), and CNVs (copy number variations). Fifty families at risk for a fetus with ARNSHL were enrolled in this study. The identification of risk was accomplished through genetic screening for the hotspot variants in common deafness genes (GJB2, SLC26A4 and mtDNA 12SrRNA) during pregnancy.