Jianhong Hu, Ph.D.

Assistant Professor, Department of Molecular and Human Genetics
General Supervisor, HGSC Clinical Laboratory

image: Jianhong Hu, Ph.D.Contact information



Ph.D., Microbiology, Case Western Reserve University, Ohio, 2005

M.S., Molecular Virology, Wuhan University, China, 1999

B.S., Virology, Wuhan University, China, 1995

Research Interests

Jianhong Hu received her Ph.D. in the field of microbiology from Case Western Reserve University in 2005.  Since joining the HGSC as an Assistant Professor in 2013, her research interests have focused on development projects that have applications in both research and clinical settings, including ultra-fast capture sequencing, exome polishing, cell-free circulating DNA sequencing, ultra-low input sample sequencing, RNAseq capture and FFPE DNA/RNA sequencing.

Her leadership role at the BCM-HGSC entails management of the research production pipelines for NexGen library target enrichment and SNP array genotyping where Jianhong has also developed and implemented optimized protocols reducing cost, increasing quality and the delivery of high throughput processing.  These protocols span regional and whole exome targeted assays as well as a variety of arrays using different technology platforms to ensure the scientific goals of each study are achieved.  She is an active participant in technology development efforts that continue to be applied to both research and clinical settings. 

As the General Supervisor for the HGSC-Clinical Laboratory, Jianhong directs and monitors the daily production operations and new workflow implementation for all sections of the laboratory which include sample intake QC, automated library preparation, target enrichment, instrumentation and SNP genotyping.  She supervises and implements quality assurance as per CAP/CLIA and other relevant regulatory guidelines and has led an ‘inspection without deficiencies’ in March 2017 and successfully passed New York State inspection in November 2017.


Tanner J-A, Zhu AZ, Claw KG, et al. Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018;28(1):7-16. doi:10.1097/FPC.0000000000000317.

Jacobs DI, Fukumura K, Bainbridge MN, et al. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018;20(12):1625-1633. doi:10.1093/neuonc/noy119.

Dinckan N, Du R, Akdemir ZC, et al. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018;176(4):1015-1022. doi:10.1002/ajmg.a.38625.

Dinckan N, Du R, Petty LE, et al. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2017:22034517724149. doi:10.1177/0022034517724149.

Meng L, Pammi M, Saronwala A, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017;171(12):e173438. doi:10.1001/jamapediatrics.2017.3438.

Eldomery MK, Coban-Akdemir Z, Harel T, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017;9(1):26. doi:10.1186/s13073-017-0412-6.

Gingras M-C, Covington KR, Chang DK, et al. Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016;14(4):907-19. doi:10.1016/j.celrep.2015.12.005.

Stray-Pedersen A, Sorte HSørmo, Samarakoon P, et al. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2016. doi:10.1016/j.jaci.2016.05.042.

Charng W-L, Karaca E, Akdemir ZCoban, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016;9(1):42. doi:10.1186/s12920-016-0208-3.