The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) was recently awarded a grant by the National Institute of Standards and Technology (NIST). The Genome in a Bottle (GIAB) consortium led by NIST routinely develops reference datasets for technology and method standardizations within and across entities.
Principal Investigators Drs. Harsha Doddapaneni and Fritz Sedlazeck, who are each Associate Professors in the BCM-HGSC, said that the significance of this effort is that new datasets, including RNA-Seq references for existing GIAB samples and new cancer (tumor-normal) information, will improve standardization and calibration in ongoing genome studies. The researchers will use a combination of Pacific Biosciences long-read and Illumina’s short-read sequencing to generate the proposed reference datasets.
The BCM-HGSC has a long-standing history in high quality sequencing generation and is well equipped with the required instrumentation, computational resources, and the necessary expertise to carry out this important task of providing new genomic standards for GIAB. Other key individuals involved in this effort include Ms. Donna Muzny, Ms. Shalini Jhangiani, Dr. Qingchang Meng and Dr. Yi Han.