BCM-HGSC in the News
Baylor College of Medicine’s Human Genome Sequencing Center Receives Best Practices Award from Bio-IT World - (Thursday, May 1, 2014)
Baylor College of Medicine’s Human Genome Sequencing Center (BCM-HGSC), in collaboration with DNAnexus, received a Best Practice award this week at the Bio-IT World Conference and Expo.
The award for IT Infrastructure and High Performance Computing recognized the organizations’ work on processing genomic data for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium using Baylor’s Mercury pipeline.
Read full announcement on BusinessWire
Learn about CHARGE project on DNAnexus
New syndrome caused by mutations in AHDC1 - (Wednesday, April 30, 2014)
Baylor College of Medicine researchers identify gene underlying a newly recognized genetic syndrome with symptoms of sleep apnea, delayed speech, and hypotonia (generalized upper body weekness).
Genetics leader reflects on 50th anniversary of discovery of genetic code - (Sunday, April 13, 2014)
Dr. Richard Gibbs’ team in the Human Genome Sequencing Center at Baylor is involved with a major initiative to advance research in the field of cancer genomics using the code.
Matthew Bainbridge was first to solve puzzle for family affected by N-glycanase deficiency (NGLY1) - (Wednesday, March 19, 2014)
This article on CNN Health Kids who don't cry: New genetic disorder discovered describes Dr. Bainbridge’s profound commitment to helping the Wilsey family identify their daughter’s rare genetic disorder; and chronicles his remarkably creative approach, including reaching out to Matthew Might, whose son Betrand is the first case of NGLY1 in medical literature, to ending the Wilseys' medical odyssey.
The research paper Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway is published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics.
Watch video: What is NGLY1 Deficiency?
Learn more about Dr. Bainbridge at his website CodifiedGenomics.com.
Bainbridge-Ropers Syndrome - (Friday, February 28, 2014)
Matthew Bainbridge leads project using exome sequencing to identify a mutation in the gene ASXL3 that results inBainbridge-Ropers syndrome.
Access the papers De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome, available on NCBI and GenomeMedicine; andClinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders,available on The New England Journal of Medicine.
Read the stories of Harrison Harkins and Della Calder, both affected by Bainbridge-Ropers syndrome.
Learn more about Dr. Bainbridge on his website CodifiedGenomics.com.
Evolutionary genetics and implications of small size and twinning in callitrichine primates - (Sunday, January 19, 2014)
"We study primate genomes to get a better understanding of the biology of the species that are most closely related to humans," said Dr. Jeffrey Rogers, associate professor in the Human Genome Sequencing Center at Baylor and a lead author on the report. "The previous sequences of the great apes and macaques, which are very closely related to humans on the primate evolutionary tree, have provided remarkable new information about the evolutionary origins of the human genome and the processes involved."
Baylor, DNAnexus, Amazon Web Services collaboration enables largest-ever cloud-based analysis of genomic data. - (Thursday, October 24, 2013)
With their participation in the completion of the largest cloud-based analysis of genome sequence data, researchers from the Baylor College of Medicine Human Genome Sequencing Center are helping to usher genomic scientists and clinicians around the world into a new era of high-level data analysis.
1000 Genomes Project provides functional insights on genetic variation - (Wednesday, October 2, 2013)
"The critical lesson in a number of recent studies including this one is that when the number of genomes included in a study increases to a few thousands, we can better refine the frequency of different gene copies (alleles), particularly those that are rare," said Dr. Richard Gibbs, director of the BCM Human Genome Sequencing Center and the local principal investigator for this study. "This factor predominantly increases our discovery power for disease mutations and highlights the defining value of the large-scale sequencing efforts where a few of sequencing centers collaborate and take on major challenges like the 1000 Genomes and the TCGA."
Whole exome sequencing takes new technology into the clinic - (Tuesday, October 1, 2013)
"This is a good example of translating the knowledge and technology developed through the Human Genome Project into clinical medicine available to physicians worldwide," said Dr. Richard Gibbs, director of the BCM Human Genome Sequencing Center and another author of the report. "This program may enhance the way we make future discoveries in genetic medicine. Depending on an individual’s results, he or she may have the opportunity to participate in research studies that are expanding knowledge and will eventually be useful back in the clinic."
BCM-HGSC joins NIH's Pharmacogenomics Research Network - (Monday, September 6, 2010)
The BCM-HGSC has received a five-year, $2.3 million grant to join the National Institutes of Health's Pharmacogenomics Research Network, a collaborative project that seeks to advance research on how genes affect people's responses to a wide variety of medicines.
Read full annoucement in BCM News