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SUMMARY:Genotype-Phenotype Relations in Human Genomics  - Lara Urban – P
 hD Candidate\, EMBL – EBI\, Wolfson College \, University of Cambridge 
DTSTART:20170224T170000Z
DTEND:20170224T171000Z
UID:TALK71149@talks.cam.ac.uk
CONTACT:Wolfson College Cambridge
DESCRIPTION:The efficient application of sequencing technology to DNA\, RN
 A and epigenetic modifications of the genome allows us to accurately map g
 enetic variation between and among species on a cellular level. We now beg
 in to understand how genetic variation affects the phenotype\, i.e. our ap
 pearance\, abilities and susceptibility to disease. However\, the multifac
 eted contribution of different genetic\, epigenetic and other factors to o
 ur phenotype and the involved mechanisms remain to be unravelled. In my Ph
 D\, I work on deciphering associations between phenotype and genotype. The
 refore\, I combine biological knowledge with the application of statistics
  and machine learning to the constantly growing abundance of biological da
 ta. I currently focus on human genetic data to understand the effect of ra
 re genetic variants\, i.e. patterns in the DNA that occur in a small perce
 ntage of humans\, on susceptibility to and development of diseases. I anal
 yse data of patients suffering from cancer\, blood diseases and stem cell 
 diseases\, made available by various international medical consortia.\n
LOCATION:Lee Hall\, Wolfson College Cambridge
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