Population Scale Clinical Sequencing

The Human Genome Sequencing Center (HGSC) at Baylor College of Medicine (BCM) is an internationally recognized Academic Center that pioneered personal clinical genomic testing via whole genome sequencing (WGS) and oligonucleotide capture for whole exome sequencing (WES) and now provides clinical genetic testing via the HGSC- Clinical Laboratory (HGSC-CL). The HGSC-CL is CAP/CLIA compliant laboratory, able to operate in all U.S. states and territories and has processed almost 200,000 samples using WGS, WES and gene panels. The HGSC-CL has developed novel capture reagents for WES and will engage with Clinical Groups in this program for genetic testing for CDC tier-one, conditions as well as for other loci that are nominated by the collaborators. Careful calibration of the capture performance enables WES to be carried out within the stringent cost demands of this program whilst leaving sufficient margin to provide parallel essays for sample tracking and detailed post sequence analysis. Expanded genome sequence assays are available, including a novel WES plus capture of common polymorphic sites for genotyping. The CDC tier 1 essays are ready for deployment and any other loci can be readily clinically validated within the HGSC-CL. Infrastructure developed for engagement of clinical groups and for secure management and delivery of genetic data will be applied and experience in similar clinical genomic programs leveraged Additional developments will speed and simplify the fundamental process of variant interpretation for reporting. Project Number: 1U01HG014623-01 | Fiscal Year: 2026 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: RICHARD GIBBS (+2 co-PIs) | Institution: BAYLOR COLLEGE OF MEDICINE, HOUSTON, TX | Award Amount: $599,448 | Activity Code: U01 | Study Section: Special Emphasis Panel[ZHG1 HGR-W (M1)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11239368