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DTSTART:20270328T030000
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DTSTART:20261025T020000
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BEGIN:VEVENT
DTSTAMP:20261111T151742Z
UID:1795172400@ist.ac.at
DTSTART:20261120T120000
DTEND:20261120T130000
DESCRIPTION:Speaker: Ekaterina Maksimova\nhosted by Veronika Sunko\nAbstrac
 t: Complex human traits and diseases are influenced by thousands of geneti
 c variants\, which are correlated through linkage disequilibrium (LD)\, ma
 y differ in frequency and effect across genetic ancestries\, and shape bot
 h disease risk and age at onset. Describing this genetic architecture\, an
 d using it for accurate risk prediction\, requires models that estimate al
 l variant effects jointly and learn the architecture directly from the dat
 a. This thesis develops and applies such joint Bayesian multiple regressio
 n models across genetic ancestries and for age at disease onset. The first
  part presents a Bayesian multi-ancestry method that moves beyond a single
  global parameter to annotation-aware parameter learning\, capturing how g
 enetic parameters vary across populations and along the allele frequency a
 nd LD spectrum\, while achieving strong predictive performance. The second
  part applies Bayesian time-to-event modelling to the age at diagnosis of 
 11 common cancers. By treating individuals without a diagnosis as right-ce
 nsored rather than as controls\, it improves both discovery\, with novel r
 egions replicating across biobanks\, and prediction\, identifying individu
 als at high genetic risk for targeted screening. Together\, this work show
 s that joint Bayesian regression models serve both genomic prediction and 
 the description of how genetic effects are distributed across the genome\,
  across populations\, and in the timing of disease onset. As biobanks grow
  larger\, older\, and more diverse\, such models will become increasingly 
 important for accurate genetic risk stratification.
LOCATION:Central Bldg / O1 / Mondi 3 (I01.O1.010) and Zoom\, ISTA
ORGANIZER:
SUMMARY:Ekaterina Maksimova: Thesis Defense: The genetic architecture of co
 mplex human traits across ancestries and disease onset
URL:https://talks-calendar.ista.ac.at/events/6763
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