The development and clinical implementation of the Whole Exome Sequencing test derives from a joint effort by Baylor's Human Genome Sequencing Center and the Medical Genetics Laboratories of the Department of Molecular and Human Genetics to establish a clinical laboratory dedicated to state-of-the-art next generation sequencing.
The Texas Cancer Research Biobank (TCRB) was created to bridge the gap between doctors and scientific researchers to improve the prevention, diagnosis and treatment of cancer.
PBSuite: Software for Long-Read Sequencing Data from PacBio
PBJelly is a highly automated pipeline that aligns long sequencing reads (such as PacBio RS reads or long 454 reads in fasta format) to high-confidence draft assembles.
PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads.
PBSuite is developed by Adam English.
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; and Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders, available on The New England Journal of Medicine.
Learn more about Dr. Bainbridge on his website CodifiedGenomics.com.