The American Society for Human Genetics meeting took place virtually this year, with participants joining plenary sessions, workshops, and poster talks, spanning the last week of October. Co-Principal Investigator of the NIGMS Repository, Dr. Matthew Mitchell, attended the meeting and presented a poster describing an ongoing research collaboration between the Coriell Institute and Pacific Biosciences. Scientists from both institutions have worked to establish a pipeline to extract and perform quality control of high molecular weight DNA from reference standard cell lines using PacBio’s HiFi long-read sequencing. This high molecular weight DNA reference samples allow researchers to improve upon typical sequencing techniques and understand additional aspects of human genomic structure, such as structural variation and HLA polymorphisms, which are otherwise much more difficult to detect.
“Scientists already rely on highly characterized reference cell lines and DNA samples from the NIGMS Repository for genetic and genomic studies, and will soon be able to take advantage of enhanced resources that we are able to provide researchers”, says Dr. Mitchell. “It was a great opportunity to discuss our work with the larger scientific community tuning in digitally from around the world.”
