How and why do the same genes work differently in different people? What causes a gene to be turned “on” or “off,” and how can that affect disease risk? Geneticist Tuuli Lappalainen from the New York Genome Center explains how genetic variants shape how our genes are expressed and how her lab is seeking to uncover the “rules” of human variation.
- The recent landmark paper on regulatory variation across human tissues by the GTEx consortium.
- A commentary on the aforementioned GTEx paper (Subscription required).
- A blog post describing how catalogs of regulatory variation in humans can help to understand disease associations.
- A review of the role of regulatory variation in human complex disease.
About the Speaker:
Tuuli Lappalainen is an Assistant Investigator and Core Member at the New York Genome Center, and an Assistant Professor in the Department of Systems Biology at Columbia University. Her research focuses on functional genetic variation in human populations and its contribution to traits and diseases. She has pioneered in integration of large-scale genome, transcriptome and epigenetic data to learn how genetic variation affects gene regulation – the largely unknown factor that underlies the majority of human diversity and disease risk. Her research group tackles these questions by both computational analysis of large data sets and experimental work using genome-editing assays. She has contributed to several international research consortia in human genomics, including the 1000 Genomes Project, the Geuvadis project, and the Genotype Tissue Expression (GTEx) Project.
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