The PacBio blog shares findings from a recent preprint of a technical pilot comparing short- and long-read sequencing. The pilot was conducted by groups participating in the All of Us program, including the Baylor College of Medicine Human Genome Sequencing Center
Mayo Clinic and Baylor study: drug-gene testing improves patient care
In a new study appearing in Genetics in Medicine, investigators from Mayo Clinic and Baylor College of Medicine found that targeted genomic information can play an important role in drug prescribing practices.
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New benchmark report provides accurate ID of variants in medically-relevant genes
Researchers from NIST, Baylor College of Medicine and DNAnexus, together with other members of the Genome in a Bottle consortium, announce the publication of a comprehensive benchmark dataset comprising 273 challenging medically relevant autosomal genes.
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Genetic cause of endometriosis IDed, potential drug target revealed
New research conducted by BCM, the University of Oxford, the University of Wisconsin-Madison and Bayer AG, offers new insight into how to treat this debilitating disease.
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Baylor researchers expand diagnosis for Xia-Gibbs Syndrome
Researchers at the BCM-HGSC have validated a new type of genetic mutation that causes a rare genetic disorder that results in severe developmental delay, sleep apnea, delayed speech and upper body weakness.
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HeartCare study IDs patients’ genetic risk for cardiovascular disease
Researchers at the Human Genome Sequencing Center and Baylor cardiologists conducted a pilot study to determine if providing genetic testing for patients in cardiovascular clinics would benefit clinical care as part of a precision medicine initiative.
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Reference genome comparison finds exome variant discrepancies in 206 gene
In a new study published in the American Journal of Human Genetics, BCM-HGSC researchers identify genetic variant discrepancies between the GRCh38 (hg38) human reference genome and the older GRCh37 (hg19).
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Human Genome Sequencing Center Clinical Lab
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.
With a commitment to improving health care through genomic testing, HGSC-CL offers clinical testing services in support of large-scale clinical sequencing efforts.
Texas Medical Center Genomic Center for Infectious Diseases
The Texas Medical Center Genomic Center for Infectious Diseases (TMC GCID) is the collaborative effort of a multidisciplinary, integrated team of basic and physician scientists at three institutions — Baylor College of Medicine, The University of Texas Health Science Center at Houston (UTHealth) School of Public Health, and The University of Texas MD Anderson Cancer Center.
The TMC GCID harnesses decades of experience in genomic sequencing, renowned clinical expertise and the use of novel ex vivo models of human intestinal and pulmonary function to create a platform for large scale genomics-based interrogation of host-mucosal pathogen interactions in the context of human tissues.
BCM-HGSC Long Read Sequencing Laboratory
The BCM-HGSC has been a leading institution in the development of cost effective, large-scale sequencing methods across a multitude of sequencing platforms, testing more than 250,000 samples. Our current instrumentation includes the Pacific Biosciences Sequel II and the Oxford Nanopore Technologies PromethION, and we are closely engaged with each of these platforms to test improvements to sequencing chemistry and software including early access to new protocols. Given the large capacity of these platforms, long read sequencing opportunities are available to those interested.
COVID-19 Research
Like much of the research community at this urgent time, the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) has turned its focus primarily toward COVID-19 testing and research. With the safety and health of the community and our personnel in mind, the BCM-HGSC is operating with staff working remotely as much as possible while a rotating lab team continues critical research on site.
› Learn more about COVID-19 research at BaylorLearning about Long Read Sequencing Utility and Applications
The Human Genome Sequencing Center at Baylor College of Medicine hosts quarterly virtual seminars encompassing various long read sequencing technologies applied to diverse research areas. This year's first seminar on March 31 will include invited speakers to discuss how they are using these technologies in their research and clinical studies.
Human Genome Sequencing Center awarded a grant from National Institute of Standards and Technology (NIST)
The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) was recently awarded a grant by the National Institute of Standards and Technology (NIST). The Genome in a Bottle (GIAB) consortium led by NIST routinely develops reference datasets for technology and method standardizations within and across entities. Principal Investigators Drs. Harsha Doddapaneni and Fritz Sedlazeck, who are each Associate Professors in the BCM-HGSC, said that the significance of this effort is that new datasets, including RNA-Seq references for existing GIAB samples and new cancer (tumor-normal) information, will improve standardization and calibration in ongoing genome studies.
Towards population-scale long-read sequencing
Advances in long-read sequencing technologies and bioinformatics have enabled the first population-scale studies with long-read sequencing in recent years. In a new review published in Nature Review Genetics, Dr. Fritz Sedlazeck and colleagues discuss these recent developments and highlight project strategies for experimental design with Pacific Biosciences and Oxford Nanopore Technology systems.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
A new paper available in preprint on bioRxiv describes the methods developed to harmonize genetic testing protocols linking multiple sites and investigators for the eMERGE III Network. The results mark a critical achievement toward global standardization of genetic testing by establishing protocols for different sites to harmonize the technical and interpretive aspects of sequencing tests. The integration of structured genomic results into multiple electronic health record systems by the eMERGE Network also sets the stage for clinical decision support to enable genomic medicine.
Uniquely comprehensive Pan-Cancer Atlas provides essential resource
A collection of 27 papers from The Cancer Genome Atlas (TCGA) consortium has been published reporting on the integrated project to analyze all 33 cancer types and to classify mutations and specific pathways. Many of the papers feature significant contributions from Baylor College of Medicine and its Human Genome Sequencing Center researchers. The findings from the 11,000 patient cohort data appear in Cell publications.
Hybrid computational strategy for scalable whole genome data analysis
In a study published in BMC Bioinformatics, researchers from Baylor College of Medicine’s Human Genome Sequencing Center, along with Oak Ridge National Laboratory, DNAnexus and the Human Genetics Center at the University of Texas Health Science Center, have developed a novel hybrid computational strategy to address the growing need for scalable, cost effective and real time variant calling of whole genome sequencing data.
This new strategy has proven successful in analyzing an unprecedented set of 5,000 samples, which constitute a critical part for the international consortia efforts known as The Cohorts for Heart and Aging Research in Genomic Epidemiology, or CHARGE.
Assessing structural variation in a personal genome—towards a human reference diploid genome
In a paper published in BMC Genomics, a team led by scientists from Baylor College of Medicine’s Human Genome Sequencing Center present Parliament, a structural variant (SV) calling pipeline that brings together multiple data types and SV detection methods to improve the characterization of these larger variants.
BCM-HGSC in the News
Dr. Bo Yuan named editor of genetics journal
Dr. Bo Yuan, associate professor of molecular and human genetics, recently was appointed editor-in-chief of Genetics in Medicine Open, an official journal of the American College of Medical Genetics (ACMG) that launched January 2023. It is a companion open-access journal of ACMG’s flagship publication, Genetics in Medicine.
Remembering Dr. C. Thomas Caskey
Dr. C. Thomas Caskey, a pioneer in genetics and genomics and a professor of molecular and human genetics at Baylor College of Medicine, has died at the age of 83. Caskey built the genetics program at Baylor from the ground up, founding what is known today as the Department of Molecular and Human Genetics and growing the department into a national leader in genetics. He is remembered for his contributions to genetic research and his dedication to mentoring and developing the next generation of scientists and physicians.
Rhesus macaque genome study enhances our understanding of human genetic variation
Researchers at Baylor College of Medicine, the University of Missouri and the University of Washington have taken a major step toward improving our understanding of the genetic variation in the rhesus macaque, the most widely studied nonhuman primate in biomedical research.
Genome Sheds Light on One of the World’s Most Costly Agricultural Pests
The North Carolina Biotechnology Center reports on a recently published study of the genome of the western flower thrips, or Frankliniella occidentalis, a major pest of agriculture in California and the southeast U.S. The Human Genome Sequencing Center sequenced and assembled the genome for this study appearing in BMC Biology.
About Us
The BCM-HGSC, founded in 1996, is a world leader in genomics.
The fundamental interests of the BCM-HGSC are in advancing biology and genetics by improved genome technologies.
One of three large-scale sequencing centers funded by the National Institutes of Health, the BCM-HGSC's location at the heart of the Texas Medical Center provides a unique opportunity to apply the cutting edge of genome technologies in science and medicine.
Recent Publications
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