In a special segment for National DNA Day, Fox 26 Houston reporter Chelsea Edwards visits the Baylor College of Medicine Human Genome Sequencing Center and talks with Dr. Richard Gibbs and the HGSC team about the history of the center and the cutting-edge research taking place in genomics.
Baylor College of Medicine receives NIH funding to study somatic mosaicism
NIH Common Fund program called Somatic Mosaicism across Human Tissues (SMaHT) Network awarded BCM researchers grants totaling more than $17.8 million to develop tools cataloging extent of somatic mosaicism in different cell types, tissues and life stages.
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Celebrating 20 years since completion of Human Genome Project
The Baylor College of Medicine Human Genome Sequencing Center celebrates 20th anniversary of the Human Genome Project with a look back at the groundbreaking achievements of this historic endeavor and the future of genetic research.
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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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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.
Learning 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
Baylor College of Medicine Human Genome Sequencing Center celebrates 20 years since the completion of the Human Genome Project
On April 14, 2003, the National Human Genome Research Institute and its international partners, including the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC), announced the completion of the Human Genome Project and the successful generation of a highly accurate and publicly available reference sequence of the human genome.
To celebrate the anniversary of completion of this unprecedented project, carried out from 1990 to 2003 and considered one of the most ambitious and important scientific endeavors in human history, From the Labs sat with Dr. Richard Gibbs, director of the BCM-HGSC since its establishment in 1996, to learn about the role BCM has played in this landmark global scientific effort.
The Human Genome Project Turns 20: Here's How It Altered the World
Marking the 20th anniversary of the announcement of the first complete sequencing of the human genome, Gizmodo takes a look at the achievements and ongoing legacy of the ambitious Human Genome Project (HGP). The tech website also interviews Dr. Richard Gibbs, founding director of the Baylor College of Medicine Human Genome Sequencing Center, which was one of five institutions that together contributed around 80% of the data for the HGP.
GigaScience names Dr. Fritz Sedlazeck guest editor for new T2T series
Dr. Fritz Sedlazeck of the Baylor College of Medicine Human Genome Sequencing Center and Dr. Jue Ruan of the Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, have been named guest editors of a new thematic series by GigaScience highlighting the telomere-to-telomere (T2T) approach to gapless sequences. The series will focus on T2T papers, including discussions of standards and definitions, datasets, methods and technologies.
Shining a light on dark genes
The PacBio blog takes a look at recent studies that examine the benefits of incorporating long-read sequencing in population genomics programs. Recently, HGSC's Dr. Fritz Sedlazeck led a collaborative project with Twist Bioscience and PacBio to optimize a gene panel for HiFi long-read technology. The main result of this study has been made available as the Twist Alliance Dark Genes Panel.
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.
Human Genome Project marks 20th anniversary
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