Tuuli Lappalainen, Ph.D.
Assistant Investigator and Core Member, New York Genome Center
Assistant Professor, Department of Systems Biology, Columbia University
Functional variation in the human genome: lessons from the transcriptome
Detailed characterization of cellular effects of genetic variants is essential for understanding genome function and biological processes that underlie genetic associations to disease. The comprehensive resources of genome+transcriptome data from the GTEx Consortium and other projects have allowed us to map genetic effects on the transcriptome across multiple human tissues. In addition to the traditional eQTL approach, allelic expression analysis has proven to be valuable for understanding regulatory variants. In this talk, I will discuss our recent work in quantifying selective constraint on genetic regulatory variants across multiple tissues.
