Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.

Summary: Hearing loss can often be passed down through families, but finding the exact genetic cause is tricky. Doctors usually use a standard DNA test called Exome Sequencing, but it sometimes misses hidden genetic clues. In this study, scientists used a more powerful tool called Genome Sequencing on families who didn't get answers the first time. They found that looking at the whole genome helps spot missing or extra pieces of DNA, finally giving these families the answers they need!