Genome and exome sequencing of a Spinocerebellar ataxias affected family. Homo sapiens

By performing exome and whole genome sequencing on multiple family members of an autosomal dominant SCA pedigree, we identified a single point mutation in the coding region of a protein-coding gene in all affected individuals but not in unaffected family members. Further, this mutation was not observed in over 200 control genomes collected in the local population and in the 1000 Genomes Project database.