Donna Muzny, M.S.

Assistant Professor, Department of Molecular and Human Genetics
Director of Operations, Baylor College of Medicine Human Genome Sequencing Center
Division Director, HGSC Clinical Laboratory

Donn Muzny, M.Sc.Contact Information

donnam@bcm.edu

Education

B.Sc., Biology, Texas A&M University, 1982

M.Sc., Genetics, Texas A&M University, 1986

Research interests

As a primary member of the BCM-HGSC faculty, I have been at the center since it was founded in 1996, when the National Human Genome Research Institute chose it for one of six pilot programs for the final phase of the Human Genome Project. 

Since then I have established a long history in sequencing platform implementation and application development for human, comparative and microbial sequencing. These goals are central to the BCM-HGSC mission of advancing precision medicine through genomics which relies on a strong foundation of quality sequencing data and technology advancement.  Both sequencing platform stability and production methods must be highly robust for accurate human sequencing applications.  As the Director of Operations for the HGSC, my scientific interest has been the continued development of high throughput platform pipelines and applications for all elements of data generation as well as the management and operational oversight of the multidisciplinary production team required for large scale sequencing production projects. Methods include exome and regional capture hybridization, whole genome and amplicon based NexGen sequencing for variant discovery and validation.  Platform development has included all major technologies including Sanger, Roche/454, Life Technologies/SOLiD, Illumina/HiSeq, Pacific Biosciences/RS and Sequel and most recently the Illumina/HiSeq X and NovaSeq platforms for high throughput Whole Genome Sequencing. 

A transition of standard exome and genome methods to a clinical environment has been a major activity of the HGSC since 2011.  In collaboration with the department of Molecular and Human Genetics at Baylor College of Medicine, the Whole Genome Laboratory (WGL, now Baylor Genetics) was established for the purpose of clinical exome sequencing.  As Technical Director of the WGL, my interests focused on the development of exome and regional protocols for clinical sequencing applications. These efforts have included the development of clinical standards for exome coverage as well as appropriate reporting mechanisms in support of clinical interpretation. Currently, as a Director for the Human Genome Sequencing Center Clinical Laboratory (HGSC-CL), my interests have expanded in clinical assay development and clinical laboratory management to provide large scale production delivery of targeted NGS panels, exome, genome and RNASeq applications for clinical research in a CAP/CLIA environment. The combined HGSC laboratory expertise in large scale sequencing and clinical diagnostic sequencing has enabled funding in competitive NIH/NHGRI programs such as Clinical Sequencing Evidence-Generating Research (CSER), the Undiagnosed Disease Network (UDN) and the Electronic Medical Records and Genomics (eMERGE) Network.

Publications

Chinn IK, Eckstein OS, Peckham-Gregory EC, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018;132(1):89-100. doi:10.1182/blood-2017-11-814244.

Lindsey ARI, Kelkar YD, Wu X, et al. Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. BMC Biol. 2018;16(1):54. doi:10.1186/s12915-018-0520-9.

Matz LM, Kamdar KY, Holder ME, et al. Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagn Microbiol Infect Dis. 2018;90(4):241-247. doi:10.1016/j.diagmicrobio.2017.11.023.

Magoulas PL, Shchelochkov OA, Bainbridge MN, et al. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018. doi:10.1182/blood-2017-12-824433.

Ruiz-García R, Vargas-Hernandez A, Chinn IK, et al. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018. doi:10.1016/j.jaci.2017.11.042.

Jordan VK, Beck TF, Hernandez-Garcia A, et al. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018;27(12):2064-2075. doi:10.1093/hmg/ddy110.

Karaca E, Posey JE, Akdemir ZCoban, et al. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018. doi:10.1038/gim.2018.33.

Palesch D, Bosinger SE, Tharp GK, et al. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018;553(7686):77-81. doi:10.1038/nature25140.

Naval-Sanchez M, Nguyen Q, McWilliam S, et al. Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds. Nat Commun. 2018;9(1):859. doi:10.1038/s41467-017-02809-1.

M Poli C, Ebstein F, Nicholas SK, et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018;102(6):1126-1142. doi:10.1016/j.ajhg.2018.04.010.