Exome sequencing of multiple-sclerosis patients and their biological relatives

This study was performed to allow and evaluation of de novo mutations and the inheritance of alleles in patientsdiagnosed with remittent recurrent multiple sclerosis. A total of 28 individuals, divided in 8 families, had their exomessequenced. None of these reported other cases of multiple sclerosis in their families. Four families consisted of atrio (mother, affected patient and the father) and for another four family groups, one non-diseased sibling was alsosequenced (quartets composed of mother, affected patient, a non-multiple sclerosis sibling, and the father).Exomes were captured from DNA extracted from circulating blood leukocytes and sequenced in an Ion Protonplatform (average of 61.85 million mapped reads/sample, or 1.2e10 mapped bases/sample).