Human Genome Sequencing Center Clinical Lab

About Us

The HGSC Clinical Laboratory (HGSC-CL) is the CAP/CLIA certified molecular diagnostic laboratory operating within the Human Genome Sequencing Center at Baylor College of Medicine.

The HGSC had a leading role in the Human Genome Project and is a world leader in genomics. The HGSC pioneered personalized genomics via whole genome sequencing (WGS), developed the first oligonucleotide capture methods, and in 2011, initiated the first whole exome sequencing (WES) clinical laboratory in a joint effort with Department of Molecular and Human Genetics and Medical Genetics Laboratories. In April 2016, the HGSC Clinical Laboratory was launched as a separate laboratory focused on supporting large-scale clinical sequencing efforts.

The extensive experience of the HGSC research program is carried through to the clinical laboratory – sequencing and bioinformatics protocols are able to be fine-tuned in the research environment before adapting and implementing for clinical use. The laboratory performs nucleic acid extraction, next-generation sequencing and analysis, variant interpretation and reporting, and orthogonal confirmation of variants using Sanger and MLPA. Validated clinical tests include WES, WGS, RNA-Seq capture, and multiple targeted NGS panels.