Madridge Journal of Internal and Emergency Medicine

ISSN: 2638-1621

International Translational and Regenerative Medicine Conference
April 25-27, 2018 | Rome, Italy

Recent Advancements in Translation and Clinical Research in Cancer

Shrikant Mane

Yale Center for Genome Analysis (YCGA), Yale University, USA

DOI: 10.18689/2638-1621.a1.004

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The Yale Center for Genome Analysis (YCGA) is a state-of-the-art DNA Sequencing Center launched in 2010 to provide an open access centralized facility for genomic analysis, equipment and expertise required for carrying out large-scale sequence analysis studies ( Our group foresaw the scientific opportunities for the development and use of exome sequencing in Mendelian genetics and was the first to develop the method for exome capture on the NimbleGen/Roche platform. We were also the first to demonstrate the biological utility of exome sequencing for clinical diagnostic and translational applications. Over the last couple of years, exome sequencing approach developed by us has identifieddisease causing variations from wide variety of phenotypes that has broadened understanding of the underlying biology linking mutations to human phenotypes. In addition, it fueled the development of essential tools for diagnosing, preventing and treating both rare and common diseases in the clinical setting. In the past five years, we have successfully applied exome analysis approach to complete whole-exome sequencing and analysis of over 75,000 samples of a wide spectrum of phenotypes to identify hundreds of novel genes. The presentation will focus on overview of translational research, biomarker discovery efforts and precision medicine efforts at Yale.

Dr. Shrikant Mane completed his PhD at The University of Bombay and Postdoctoral studies from The Johns Hopkins University School of Medicine. He is the Professor of Genetics, Director of MBB Keck Biotech laboratory & Director of Yale Center for Genome Analysis, one of the most scientifically productive and accomplished Genome Centers. He has published more than 100 papers in reputed journals and has been serving as an ad hock reviewer of several journals. He is currently one of the principle investigators of a $12 million grant from NIH/NHGRI to establish The Yale Center for Genome Analysis