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SUMMARY:Functional variation in the human genome: lessons from the transcr
 iptome - Prof. Tuuli Lappalainen
DTSTART:20170403T150000Z
DTEND:20170403T160000Z
UID:TALK67064@talks.cam.ac.uk
CONTACT:46487
DESCRIPTION:Detailed characterization of cellular effects of genetic varia
 nts is essential for understanding biological processes that underlie gene
 tic associations to disease\, as well as basic genome function. One approa
 ch to address this challenge is to combine genomic data to a cellular phen
 otype\, such as the transcriptome measured by RNA-sequencing. The comprehe
 nsive resources of genome and transcriptome data have allowed us to map ge
 netic effects on the transcriptome across multiple human tissues and condi
 tions. In addition to the traditional eQTL approach\, allelic expression a
 nalysis has proven to be valuable for understanding regulatory variants an
 d their interactions with coding variants\, and selective constraint on re
 gulatory mutations. In this talk\, I will discuss our recent work in integ
 rated analysis of genome and transcriptome variation as a powerful approac
 h to understanding genetic variants and genome function. \n\n\nTuuli Lappa
 lainen\nNew York Genome Center\, New York\, USA\nDepartment of Systems Bio
 logy\, Columbia University Medical Center\, New York\, USA\n\nTuuli Lappal
 ainen is an Assistant Investigator and Core Member at the New York Genome 
 Center\, and an Assistant Professor in the Department of Systems Biology a
 t Columbia University. She got her PhD from University of Helsinki in 2009
 \, and did postdoctoral research with Manolis Dermitzakis at University of
  Geneva\, and Carlos Bustamante at Stanford University. Her research focus
 es on functional genetic variation in human populations and its contributi
 on 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 expe
 rimental work using genome editing assays. She has contributed to several 
 international research consortia in human genomics\, including the 1000 Ge
 nomes Project\, the Geuvadis project\, and the Genotype Tissue Expression 
 (GTEx) Project. 
LOCATION:CRUK CI Lecture Theatre (Room 001)
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