High-Density Optical Mapping & Long-Read Sequencing Decipher Structural Composition of ATXN10 Repeat Expansion

Dr. Birgitt Schuele, Stanford University School of Medicine used OGM to measure a large repeat expansion in a family with spinocerebellar ataxia type 10, a disease characterized by uncoordinated movements, dementia and/or seizures, as a result of brain atrophy mainly in the cerebellum. With Saphyr she was able to size the very large repeat and detect somatic mosaicism, neither of which has been possible with next generation sequencing or PCR.