Webinar: Anthony Nolan’s Neema Mayor Reports on HLA Typing with Long Reads

Following the recent paper about HLA typing from scientists at Anthony Nolan Research Institute, we thought readers might enjoy this webinar from Neema Mayor, a scientist at the institute and lead author on the paper. The video offers a great foundation on HLA typing for beginners as well as more detailed information about typing technologies for advanced users. (Learn more about the institute’s plans for HLA typing in this GenomeWeb article.)
Named for Anthony Nolan, a young boy whose need for a bone marrow transplant spurred his mother to start the world’s first registry of potential donors, the institute focuses heavily on education and research, Mayor says. She and her colleagues brought in the PacBio® sequencing platform last year to assess the utility of long reads based on single molecules for HLA analysis, a process used for matching organs in transplant patients.

Mayor offers a nice introduction to the challenges of characterizing the HLA region, noting that improvements in resolution have allowed scientists to dramatically expand the number of classifications used to match donors to recipients. (For example, serology tests used in the past could type someone as A2; today, DNA sequencing can distinguish 714 subtypes within A2.) As sequencing resolution improves, Mayor says, scientists expect to find even more polymorphisms than what has been already catalogued.
Phasing those polymorphisms is the next big challenge Mayor sees. While DNA sequencing technologies have achieved very good accuracy, most still can’t phase alleles. Phasing information could ultimately improve survival rates and reduce risk for transplant patients, so it’s critical to get this data without relying on imputation. The team’s evaluation of SMRT® Sequencing found that long reads allowed for reliable phasing of variants. In a study of 45 DNA samples from blood, saliva, and umbilical cord blood, PacBio sequencing was 100 percent accurate — even identifying novel alleles, Mayor says.
The webinar is less than half an hour long. If you’re interested in HLA typing, we think it’ll be a great resource.  For other resources on HLA analysis, visit www.pacb.com/hla.