BCM-HGSC in the News
PacBio Users Share New Tools and Applications at Meeting in Baltimore - (Wednesday, June 18, 2014)
Meanwhile, software tools created both at PacBio and by the company’s user community have helped to make sense of long reads. The HGAP tool has become the standard for de novo assembly of bacterial genomes, and PBJelly, the brainchild of Adam English at the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, has automated the process of using long reads to fill in gaps in draft genomes. The still-experimental FALCON is PacBio’s follow-up to HGAP, for assembling diploid genomes.
Read PBJelly paper, published on BMC Bioinformatics: PBHoney: Identifying Genomic Variants via Long-Read Discordance and Interrupted Mapping
Dr. Matthew J. Ellis named new director of Lester and Sue Smith Breast Center - (Monday, June 9, 2014)
“Dr. Ellis will be an outstanding addition to the Smith Breast Center team and our mission to improve diagnosis, prevention and treatment of breast cancer,” said Osborne. “He will serve as an important link with the Baylor Human Genome Sequencing Center. In addition, he brings with him a large resource of patient derived xenografts (tumors taken directly from the patient and studied in animals) which are excellent for testing new therapies and understanding treatment resistance.”
Dr. Richard Gibbs awarded prestigious Companion of the Order of Australia - (Sunday, June 8, 2014)
Renowned genomics researcher Dr. Richard Gibbs of Baylor College of Medicine has been awarded the prestigious honor of the Companion of the Order of Australia—an accolade issued by the Australian government that recognizes eminent achievement and merit of the highest degree in service to Australia or humanity at large.
International collaboration explains sheep genome, secrets of unique digestive and metabolic systems - (Wednesday, June 4, 2014)
An international team of scientists including the Human Genome Sequencing Center at Baylor College of Medicine has completed the first ever sequence of the sheep genome, shedding new information on the species’ unique and specialized digestive and metabolic systems.
Chipping away at the cause behind rare tumors - (Tuesday, June 3, 2014)
A new study by an international collaboration of researchers, including those from Baylor College of Medicine, has uncovered the underlying mutations in intracranial germ cell tumors, which could lead to new therapeutic targets. The findings were published in a recent edition of the journal Nature.
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.