Strand-seq and the future of personalized genomics - PubMed
5 hours ago
- #chromosome phasing
- #personalized genomics
- #Strand-seq
- Strand-seq, in combination with long-read data, enables chromosome-length phasing, improving genomic variation characterization.
- New diploid assembly analyses allow nearly complete descriptions of genomic variation in personal genomes.
- A Strand-seq-based phasing method can assign genetic variants to maternally or paternally inherited chromosomes using DNA methylation.
- Despite genome sequencing advances, many rare disease patients remain undiagnosed due to challenges in phasing and variation characterization.
- The technique represents a new frontier in personalized genomics, enhancing risk assessment for heritable diseases and drug responses.