Monday, March 30, 2020

Customer Experience: Exploring the genetics of fragile X syndrome using DNA sequencing technology

Paul Hagerman, MD/PhD, a professor in the biochemistry and molecular medicine department at UC Davis discusses the use of PacBio SMRT sequencing technology for the fragile X gene. Hagerman says the PacBio RS is able to sequence through more than a kilobase of the CGG trinucleotide repeat element underlying Fragile X Syndrome — something no other sequencing platform has achieved. He also plans to use the data to study methylation of this gene, which tends to occur in cases where there are more than 200 copies of the CGG element.

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