Human Genome Sequencing Center acquires new sequencer

The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) recently was awarded a National Institutes of Health grant for acquisition of the Pacific Biosciences Sequel II DNA sequencing instrument. This technology will help improve sequencing capacity and efficiency.

“The Sequel II sequencer is a state-of-the art single molecule long-read sequencing platform that is capable of sequencing through ‘difficult’ regions of the human genome, enabling comprehensive genome sequencing,” said Dr. Richard Gibbs, founding director of BCM-HGSC and Wofford Cain Chair and professor of molecular and human genetics at Baylor. “This is the first Sequel II instrument in the city of Houston and in the Texas Medical Center and will be made available to NIH-supported investigators across Baylor and the TMC.”

The BCM-HGSC has accumulated extensive experience with the PacBio platform and contributed to the development of associated laboratory methods as well as software development tools for community use. The BCM-HGSC was one of the first sites to install PacBio’s SMRT sequencing instruments.

“The key advance in the Sequel II is the usage of new 8M SMRT Cells, which increase data output by approximately a factor of eight and decreases run cost significantly,” said Donna Muzny, director of operations at the BCM-HGSC. “The Sequel II DNA sequencing instrument will support whole-genome sequencing, targeted sequencing, transcriptome sequencing and epigenetic sequencing and will impact both basic and clinical research endeavors.”

“One immediate application we are excited about for this platform is the use of long reads to characterize genomic regions that are important in immune response in humans,” said Dr. Harsha Doddapaneni, assistant professor and director of technology development at the BCM-HGSC. “This tool will be key to elucidating the variance we observe in the severity of response to SARS-CoV-2 infections”.

A Long-Read Support leadership group consisting of Muzny, Doddapaneni and Dr. Fritz Sedlazeck will drive active platform use and collaborations. Other key individuals involved in this effort include Dr. Qingchang Meng, Dr. Yi Han and Shalini Jhangiani. The BCM-HGSC plans to make this resource broadly available across BCM and the TMC. Interested investigators may direct their project development enquiries to BCM-HGSC Director of Project Development Ginger Metcalf at metcalf@bcm.edu.

This instrument is funded through NIH S10 grant (1S10OD028587). A total of 12 groups across 5 departments at Baylor and one group from the UTHealth School of Public Health supported this application.