Connecting gene mutations, rare genetic diseases
Investigators at the Human Genome Sequencing Center have developed new approaches for large-scale analysis of Mendelian disorders.
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Study builds roadmap for collecting, sequencing genetic data
Results of a four-year NIH study to harmonize and standardize clinical genetic reporting have been published in the American Journal of Human Genetics.
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Grant funds mucosal infection research
NIH grant will fund research to study mucosal infection through the use of genomics and organoid model systems – cell-derived, in vitro 3D organ models that enable the study of biological processes.
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Distinct stages in infant microbiome development identified
In the largest clinical microbiome study in infants reported, researchers explored the sequence of microbial colonization in the infant gut and found distinct stages of development in the microbiome.
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Baylor’s HGSC named an NIH All of Us research center
The All of Us Research Program, part of the National Institutes of Health, has named a consortia led by the Baylor College of Medicine Human Genome Sequencing Center as one of three centers responsible for generating clinical grade genomic data.
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Grant to compare large-scale genomic sequencing, standard clinical tests for childhood cancer patients
NHGRI/NCI grant supports Baylor's KidsCanSeq program to serve highly diverse patient population at five sites.
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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.
Structural Variants in the Cloud Hackathon
Baylor College of Medicine will host a three-day bioinformatics hackathon in Houston, April 19-21, 2020. 
Potential topics include mapping structural variants to public databases, calculating the heritability of different types of structural variants, CNV effect on isoform expression, assembly accuracy for metagenomics and quality assessment in large cohorts.
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.
An Open Access Pilot Freely Sharing Cancer Genomic Data From Participants in Texas
In a pilot Open Access (OA) project from the CPRIT-funded Texas Cancer Research Biobank (TCRB), many Texas cancer patients were willing to openly share genomic data from tumor and normal matched pair specimens. For the first time, genetic data from seven human cancer cases with matched normal are freely available without requirement for data use agreements nor any major restriction except that end users cannot attempt to re-identify the participants.
The TCRB was created to bridge the gap between doctors and scientific researchers to improve the prevention, diagnosis and treatment of cancer.
› Access data
› Read data descriptor in Scientific Data journal
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
Researchers gathered at Baylor College of Medicine on Oct. 11-13 for an NCBI Structural Variant Hackathon, jointly sponsored by DNAnexus and Nvidia. The "Inside DNAnexus" blog takes a look at this productive gathering and its collaborative solutions to the challenges of structural variants.
Clinical exome sequencing has revolutionized genetic testing for children with inherited disorders, and Baylor College of Medicine researchers have led efforts to apply these DNA methods in the clinic. Nevertheless, in more than two-thirds of cases, the underlying genetic changes in children who undergo sequencing are unknown. Researchers everywhere are looking to new methods to analyze exome sequencing data to look for new associations between specific genes and those rare genetic diseases – called Mendelian disorders. Investigators at the Human Genome Sequencing Center have developed new approaches for large-scale analysis of Mendelian disorders, published in the American Journal of Human Genetics.
The National Institutes of Health has conducted a four-year study to harmonize and standardize clinical genetic reporting. The results are published online in the American Journal of Human Genetics. The Baylor College of Medicine Human Genome Sequencing Center was one of two Centralized Sequencing and Genotyping (CSG) Facilities, and performed the data generation, analysis and clinical data reporting for more than 14,500 of the 25,000 participants, in this phase of the program.
In 1998, the Human Genome Sequencing Center at Baylor College of Medicine was chosen as one of three centers to finish the sequencing of the human genome.
April 25 marks National DNA Day, which recognizes the completion of the Human Genome Project. Learn more about Baylor’s role in the Human Genome Project and see historical photos.
Baylor College of Medicine will receive a grant of up to $19.5 million over five years from the National Institutes of Health and its Genomic Centers of Infectious Diseases Program. This grant will fund Baylor research to study mucosal infection (bacteria, viruses and parasites) through the use of genomics and organoid model systems – cell-derived, in vitro 3D organ models that enable the study of biological processes.
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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