Transcriptome sequencing uncovers functional variation in the human genome
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Presentation
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Publication Date
4-23-2014
Abstract
Overall Goals and Objectives:
1. Enhance understanding of fundamental principles of cell, tissue and organ development, structure and function
2. Enhance understanding of how effects in these fundamental processes can contribute to the onset and progression of disease
3. Provide information and discussion that will benefit the practices of researchers and clinicians
Presentation: 55 minutes
Recommended Citation
Lappalainen, PhD, Tuuli, "Transcriptome sequencing uncovers functional variation in the human genome" (2014). RNA Matters Lecture Series. Presentation 9.https://jdc.jefferson.edu/rnamatters/9
RNA Matters Lecture Series Flyer.pdf (547 kB)
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Tuuli Lappalainen is a junior investigator at the New York Genome Center and the first faculty member of the new institute, with a joint position as assistant professor at the Department of Systems Biology at Columbia University. Her work is focused on understanding functional variation in the human genome, and she has pioneered in integrating genome and transcriptome sequencing data to characterize regulatory variation. She is part of many major consortia in human genomics, including the 1000 Genomes project and the GTEx consortium. She did her postdoctoral training in the University of Geneva Medical School with Manolis Dermitzakis, and in Stanford University with Carlos Bustamante, and her PhD is from the University of Helsinki in 2009, supervised by Juha Kere and Päivi Lahermo, with a focus on genetic variation of North European populations.