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

Powell BC, Jiang L, Muzny DM, et al. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013;60(6):E1-3. doi:10.1002/pbc.24417.

Pickering CR, Zhang J, Yoo SYoung, et al. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013;3(7):770-81. doi:10.1158/2159-8290.CD-12-0537.

Crowley JJ, Hilliard CE, Kim Y, et al. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013;18(2):138-40. doi:10.1038/mp.2012.28.

English AC, Richards S, Han Y, et al. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012;7(11):e47768. doi:10.1371/journal.pone.0047768.

Hughes JF, Skaletsky H, Brown LG, et al. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012;483(7387):82-6. doi:10.1038/nature10843.

McIntyre JC, Davis EE, Joiner A, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012;18(9):1423-8. doi:10.1038/nm.2860.

Mackay TFC, Richards S, Stone EA, et al. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012;482(7384):173-8. doi:10.1038/nature10811.

Biankin AV, Waddell N, Kassahn KS, et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012;491(7424):399-405. doi:10.1038/nature11547.

Čejková D, Zobaníková M, Chen L, et al. Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. PLoS Negl Trop Dis. 2012;6(1):e1471. doi:10.1371/journal.pntd.0001471.

Qin X, Galloway-Peña JR, Sillanpaa J, et al. Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes. BMC Microbiol. 2012;12:135. doi:10.1186/1471-2180-12-135.