Whole genome sequencing

We use massively parallel sequencing to investigate common and rare variants present in the genomes of MS subjects. We conducted the first whole-genome, transcriptome and methylome sequencing of an MS individual and her unaffected monozygotic twin (Baranzini et al. Nature; 2010). We are now extending this study to families with multiple affected subjects and special sporadic cases of MS. We recently completed a pilot study where we tested whether significant differences were observed between an Epstein-Barr virus (EBV) transformed cell line and genomic DNA isolated from fresh blood cells form the same individual (Nickles et al. BMC Genomics; 2012). Methods: Statistical genetics, bioinformatics.







First MS genome sequenced. In 2010 we reported the entire sequence of an MS patient and her unaffected twin sister. These were also the first female genomes reported in the literature.