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Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene
Neurology, 08/20/2012
Dyment DA et al. – Rs55762744 is a rare variant of modest effect on multiple sclerosis (MS) risk affecting a subset of patients (0.8%). Within this pedigree, rs55762744 is common and appears to be a modifier of modest risk effect. Exome sequencing is a quick and cost–effective method and the authors show here the utility of sequencing a few cases from a single, unique family to identify a novel variant. The sequencing of additional family members or other families may help identify other variants important in MS.