Shashirekha Shetty, PhD

Associate Professor
Department of Pathology
School of Medicine

I’m a board-certified clinical cytogeneticist and a molecular geneticist with expertise in cytogenomics and molecular diagnostics in both the germline and somatic setting. My current major clinical focus is on assay development for non-invasive prenatal screening (NIPS) using panel-based testing to evaluate genes associated with ultrasound detected fetal structural abnormalities. My research collaborations with basic and translational researchers include characterization of human model cell lines to understand disease mechanisms. 

The available technologies in the cytogenomics laboratory are chromosome (karyotyping), fluorescence in situ hybridization and genomic chromosomal microarrays.  These tests provide information on balanced structural and unbalanced copy number changes.  The molecular laboratory offers a diverse testing menu including next generation sequencing (NGS).  The genomic characterization performed in these diagnostic settings provide accurate and reproducible data that can be used with confidence for discovery in the research arena. Inquiries about research collaborations are welcome.

External Appointments

Director, Cytogenetics Laboratory, Center for Human Genetics Laboratory
University Hospitals
Associate Director, Laboratory Genetics and Genomics (LGG) Fellowship Program
University Hospitals


Morton AR, Dogan-Artun N, Faber ZJ, MacLeod G, Bartels, Piazza MS, Allan KC, Mack SC, Wang X, Gimple RC, Wu Q, Rubin BP,  Shetty S, Angers S, Dirks PB, Sallari RC, Lupien M, Rich JN, Scacheri PC. Functional Enhancers Shape Extrachromosomal Oncogene Amplifications. Cell 2019, 179: 1330-1341.

Hodge JC, Bosler D, Rubinstein L, Sadri N, Shetty S. Molecular and pathologic characterization of AML with double Inv(3)(q21q26.2). Cancer Genet. 2019; 230:28-36.

Donaldson AR, Shetty S, Wang Z, Rivera CL, Portier BP, Budd GT, Downs-Kelly E, Lanigan CP, Calhoun BC. Impact of an alternative chromosome 17 probe and the 2013 American Society of Clinical Oncology and College of American Pathologists guidelines on fluorescence in situ hybridization for the determination of HER2 gene amplification in breast cancer. Cancer 2017, 123: 2230-2239.

Zhao X, Chen-Kiang S, Shetty S, Di Liberto M, Bodo J, Durkin L, W, Eng K, Elemento O, Smith MR and Hsi ED.  CCMCL1: A New Cell Line Model of Aggressive Mantle Cell Lymphoma. Blood. 2015, 125: 2730-2732.

Zhou W, Yang Y, Xia J, Wang H, Salama ME, Xiong W, Xu H, Shetty S, Chen T, Zeng Z, Shi L, Zangari M, Miles R, Bearss D, Tricot G, Zhan F. NEK2 induces drug resistance mainly through activation of efflux drug pumps and is associated with poor prognosis in myeloma and other cancers. Cancer Cell 2013, 23: 48-62.