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long-read sequencing
Trends
- 13billion says it cracked FSHD diagnosis with long-read sequencing●Unlocking the “Unmappable” D4Z4 Repeat: How 3billion Mastered FSHD Diagnosis with Long-Read Sequencing
Genetic testing company 3billion announced it has mastered diagnosis of facioscapulohumeral muscular dystrophy (FSHD) by sequencing the D4Z4 repeat, a region long considered unmappable with standard short-read methods. The company says long-read sequencing now allows reliable analysis of this repetitive DNA segment, potentially improving diagnosis for patients who previously went undetected. Details on clinical validation remain limited.
- 2Long-Read Sequencing Yields New Deeply Characterized iPSC Resource▼Long-Read Genome Sequencing Powers a New, Deeply Characterized iPSC Resource for Lab Modeling
A new resource of induced pluripotent stem cells has been developed using long-read genome sequencing, providing researchers with deeply characterized cell lines for laboratory disease modeling. The combination of long-read technology, which captures complex genomic regions that shorter methods miss, with iPSC lines aims to give scientists a more complete genetic picture for studying disease in the lab.