Tag Archive: machine learning

Jun 7 2019

Fusing Computational Genomics and Functional Genomics To Elucidate Disease

Harnessing the power of big data and machine learning as a digital crystal ball, 2019 Research Scientific Symposium Keynote Speaker Olga Troyanskaya, PhD, showed the audience how her lab is delving into biochemical activity in the vast non-coding regions of the genome to make predictions about genetic variants’ causal connections to rare diseases and complex common disorders. 

A professor at the Lewis-Sigler Institute for Integrative Genomics and the Department of Computer Science at Princeton University, Dr. Troyanskaya wants to find the meaning in the mountain of information genomic databases have compiled in recent years. While each single-nucleotide variant associated with a disease is a stepping stone, she encouraged researchers to reach a greater understanding of specific variants’ function, their effects on gene expression, and how they may influence disease risk and pathophysiology. 

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Dec 3 2018

From Big Dreams to Big Data in Pediatrics: Q&A With Jeff Pennington

Children’s Hospital of Philadelphia and its Research Institute has the ability to explore pediatric data better than almost anywhere else in the world to solve challenging problems in child health. In his new role as associate vice president and chief research informatics officer at the Research Institute, Jeff Pennington sees a “don’t miss” window opening where CHOP is at the right time with the right tools, infrastructure, people, and skills in place to launch Arcus, an integrated data science platform.

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