Vaidehi Jobanputra, PhD, FACMG

Lab Groups & Research Areas

Biology, Genomics & Technology Clinical Research & Diagnostics Lab

Vaidehi Jobanputra, PhD, FACMG, is the Chief Diagnostics Officer at the New York Genome Center and also holds an academic appointment as Associate Professor of Pathology & Cell Biology at Columbia University Medical Center.

Dr. Jobanputra joined the NYGC in the spring of 2014. She oversees all clinical testing at NYGC and leads a team of 16 individuals including clinical technologists, bioinformatics scientists, and supporting staff. At NYGC, Dr. Jobanputra has been responsible for setting up the clinical laboratory, overseeing the validation and launch of the Constitutional Exome, Genome and Targeted Variant assays, as well as reference sequencing. She is also responsible for the validation and oversight of the Oncology Genome, Exome and Transcriptome sequencing assays.

Dr. Jobanputra’s research focuses on genomic and transcriptome studies of rare undiagnosed diseases and cancer. She has been a PI and Co-PI on several externally funded research projects. She brings in clinical curation and interpretation expertise as a member of the ClinGen, Dosage Sensitivity Curation task team of the Genomic Variant Working Group and as a member of the task team for developing consensus guidance on annotating low penetrance sequence and copy number variants for Mendelian disorders.

Dr. Jobanputra obtained a B.S. in Biology from New Delhi University, and a Ph.D. in Genetics from All India Institute of Medical Sciences in India. She then earned an M.S. in Biostatistics from Columbia University. Dr. Jobanputra holds Board Qualifications from the American Board of Medical Genetics in Clinical Cytogenetics and Clinical Molecular Genetics, and is a fellow of the American Board of Medical Genetics and Genomes. She has more than 15 years of experience in molecular diagnostics. Her prior experiences include Assistant Medical Director of the Clinical Cytogenetics Laboratory at New York Presbyterian Hospital and the Laboratory of Personized Genomic Medicine in the Department of Pathology at Columbia University Medical Center.