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. 

Human Genome Sequencing Center Clinical Laboratory logoThe 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.

Clinical Sequencing Projects

  • eMERGE Network

    Electronic Medical Records and Genomics (eMERGE)

    To support eMERGE Phase III, Human Genome Sequencing Center Clinical Laboratory is providing sequencing service for 14,500 study participants, variant calling, annotation and confirmation, interpretation and reporting.

  • HeartCare

    HeartCare: A Cardiovascular Genomics Study

    In collaboration with Baylor College of Medicine cardiologists, the Human Genome Sequencing Center Clinical Laboratory has developed HeartCare™, a custom test targeting genes that influence risk for cardiovascular disease and related conditions.

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    KidsCanSeq Study

    The Baylor College of Medicine Texas KidsCanSeq Study aims to assess the utility of genome-scale testing, compared with more targeted methods, in diverse pediatric cancer patient populations and diverse healthcare settings in Texas.

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    Pharmacogenomics: RIGHT10K study

    Mayo Clinic is collaborating with the Baylor College of Medicine Human Genome Sequencing Center Clinical Laboratory to sequence 76 pharmacogenes from Mayo Clinic Biobank samples from 10,000 patients who receive all of their health care at Mayo Clinic in Rochester, Minnesota.

Clinical Laboratory Team

Christine Eng, M.D.
Medical Director

Donna Muzny, M.S.
Division Director

David R. Murdock, M.D., F.A.C.M.G.
Assistant Director

Dr. Jianhong Hu
General Supervisor

Eric Venner, Ph.D.
Manager, Clinical Pipeline