Next Generation Mendelian Genetics: Hereditary Neurological Disorders

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause. ]]>
Individuals with inherited neurologic disorders of unknown etiology were included in the studies. In most cases there is a multigenerational family history.]]>
Subjects for exome study are selected from a large collection of pedigrees with neurogenetic disorders of unknown etiology. This subject set has been accrued over more than 30 years and mostly consists of very rare disorders. When there are sufficient numbers of subjects with what appears to be the same disorder it is chosen for active study. Descriptive name, phenotype information and exome data are then supplied. The study version 2 release makes available data of n=9 additional subjects.]]>