BCM-HGSC in the News

HiFi long-read sequencing brings more accuracy to population genomics studies - (Sunday, January 22, 2023)

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

Dr. Bo Yuan named editor of genetics journal - (Friday, January 20, 2023)

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 - (Friday, January 14, 2022)

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 - (Thursday, January 7, 2021)

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.

“We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information,” said Dr. Jeffrey Rogers, associate professor at the Human Genome Sequencing Center and Department of Molecular and Human Genetics at Baylor and one of the corresponding authors of the study.

Genome Sheds Light on One of the World’s Most Costly Agricultural Pests - (Monday, October 19, 2020)

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.

Unravelling arthropod genomic diversity over 500 million years of evolution - (Thursday, January 23, 2020)

An international team of scientists report in the journal Genome Biology results from a pilot project to kick-start the global sequencing initiative of thousands of arthropods. Comparative analyses across 76 species spanning 500 million years of evolution reveal dynamic genomic changes that point to key factors behind their success and open up many new areas of research. Dr. Stephen Richards launched the i5k pilot project at the Baylor College of Medicine Human Genome Sequencing Center to sequence, assemble, and annotate the genomes of 28 diverse arthropod species carefully selected from 787 community nominations.

Hidden in Plain Sight — A Bioinformatics Journey into Structural Variation Calling in the Long Read Sequencing Era - (Tuesday, January 21, 2020)

Dr. Liz Tseng of Pacific Biosciences catches up with Dr. Fritz Sedlazeck of the Baylor College of Medicine Human Genome Sequencing Center to discuss Structural Variant (SV) calling with long reads, the lifecycle of bioinformatics tools, and the future of phased assemblies and SV calling. Dr. Medhat Mahmoud joins the conversation to review current SV tools and discuss the journey to becoming a Postdoc at HGSC.

Providing Bioinformatics Solutions to Address Challenges with Structural Variants - (Thursday, November 7, 2019)

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.

Connecting gene mutations, rare genetic diseases - (Thursday, October 24, 2019)

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 today in the American Journal of Human Genetics.

The investigators used an Apache Hadoop data lake, a data management platform, to aggregate the exome sequencing data from approximately 19,000 individuals from different sources. Using information from previously solved disease cases, they established methods to rapidly select candidates for Mendelian disease. They found 154 candidate disease-associating genes, which previously had no known association between mutation and rare genetic disease, according to Adam Hansen, lead author of the study and graduate student in molecular and human genetics at Baylor. 

“We found at least five people for each of these 154 genes that have very rare genetic mutations that we suspect might be causing disease,” Hansen said. “This shows the power of big data approaches toward accelerating the rate of discovery of associations between genes and rare diseases.”

“These computational methods solve the dual problems of large-scale data management and careful management of data access permission.” said Dr. Richard Gibbs, study author and professor of molecular and human genetics and director of the Human Genome Sequencing Center at Baylor. “They are perfect for outward display of data from the Baylor College of Medicine programs.” 

Study builds roadmap for collecting, sequencing genetic data - (Thursday, August 22, 2019)

Precision medicine aims to deliver personalized treatment based on an individual’s genetics, environment and lifestyle. This approach depends on researchers’ ability to study DNA from people with and without clinical conditions. Often, clinical visits provide the perfect opportunity to collect those genetic samples. 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 work of the NIH’s Electronic Medical Records and Genomics (eMERGE III) program coordinated activities at 11 clinical participant enrollment sites with two sequencing centers and a coordinating center to analyze the DNA of more than 25,000 participants enrolled through biobank programs. 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.

“Together with our colleagues in the eMERGE III Network we have built a roadmap for coordination of future efforts in precision medicine,” said Dr. Richard Gibbs, study author and director of the Human Genome Sequencing Center and professor of molecular and human genetics at Baylor College of Medicine. “All of the steps, from consenting individual participants, extracting DNA, sequencing, interpreting and returning clinical data, were coordinated and finessed.”