Study

Ataxia Gene Identification by Integrated Genomic Analysis

Study ID Alternative Stable ID Type
phs000757 Family

Study Description

Ataxias are a group of diseases that result in a lack of coordinated muscle movement. Hereditary ataxias are genetically heterogeneous and it is reported that 40% of suspected genetic ataxias currently have an unknown cause. We used exome sequencing to detect mutations responsible for ataxia. We sequenced, when available, multiple individuals per family to identify family specific mutations and further confirmed segregation of variants using samples from available affected and unaffected family members.

Archive Link Archive Accession
dbGaP phs000757

Who archives the data?

There are no publications available