BIRS Workshop Lecture Videos
eQTLs discovery and characterization Lappalainen, Tuuli
Detailed characterization of cellular effects of genetic variants is essential for understanding biological processes that underlie genetic associations to disease, as well as basic genome function. One approach to address this challenge is to combine genomic data to a cellular phenotype, such as the transcriptome measured by RNA-sequencing. The comprehensive public resources of genome+transcriptome data 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, imprinting, and nonsense-mediated decay, resulting on comprehensive characterization of these phenomena across human individuals and tissues. Population genetic interpretation of genetic variation have proven powerful in understanding interactions between regulatory and coding variants, and selective constraint on regulatory mutations. In this talk, I will discuss recent advances in integrated analysis of genome and transcriptome variation as a powerful approach to understanding genetic variants and genome function, as well as future challenges in this field.
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