Colloquia, Seminars and Conference News
Title : On estimating the unseen genetic variation in the human genome
Date : April 3, 2009. (2:00 pm) Tea starts half an hour before each seminar
Location: ITEB 336
Speaker : Iuliana Ionita
Abstract:
The various genetic variation discovery projects aim to identify as much as possible of the underlying genetic variation in different human populations. The question we address in this talk is how many new (not yet seen) genetic variants are yet to be found.
We regard this question as an instance of the species problem in ecology, where the goal is to estimate the number of unseen species in a closed population. Using a parametric empirical Bayes model, we propose a method to estimate the number of new variants with a desired minimum frequency to be discovered in future studies, based on observed sequence data for a small number of individuals. The approach can also be used to predict the number of individuals necessary to sequence in order to capture the variation with a specified minimum frequency.
We show results based on sequence data from four human populations, and discuss applications of these methods in the context of disease association studies with rare variants. We also show how these methods can be applied to address the question of whether copy-number variants (CNVs) are mostly rare, and in particular provide an estimate of the number of common CNVs.
Bio:Iuliana Ionita-Laza is a Research Associate in the Department of Biostatistics, Harvard School of Public Health. She received her PhD at the Courant Institute of Mathematical Sciences, NYU in 2006. Her research interests are in designing statistical and computational methods for problems in genetics.
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