Montreal Spring School of Population Genomics and Genetic Epidemiology
01-Jun-2010 - 04-Jun-2010
Montreal Spring School of Population Genomics and Genetic Epidemiology
1st - 4th June 2010
Extended program
See www.MontrealSpringSchool.ca
For details
Instructional Program
Day 1 - June 1st
Introductory Concepts in Human Populations and Medical Genomics
Instructors: Philip Awadalla and Lluis Quintana-Murci
Time: 8:00 - 17:00
Place: Room 1
· Lecture will cover major modern concepts in population genetics.
Models that describe genealogical histories underlying sampled
chromosomes in natural populations are central to the analysis of such
data. The lecture covers the derivation and properties of the basic
model and its extension to include factors such as recombination,
geographical structure.
o Mutation and recombination
o Recombination at pedigree level - concept of linkage disequilibrium
(LD)
o Measures of LD and its decay
o Coalescence and population genealogies - demography
· Population mutation parameter, population recombination rate
· The lab introduces methods of analysis using the statistical
software
package R.
· Data resources
o 1000 genomes project
· Demography of human populations. Inferences from uniparental and
autosomal markers.
o This lecture will introduce the different models to explain human
evolution. It will give an overview of the most recent genetic data
explaining the human origins and migration patterns. It will
concentrate on
phylogeographic studies, mostly concerning uniparentally-inherited
genomes.
o A rapid overview of the HapMap contribution to the better
understanding
of the demographic history of human population will be given.
o A new Human Genome Diversity Project (HGDP) resource
Day 2 - June 2nd
Introductory Concepts in Genetic Epidemiology
Instructors: Marie-Hélène Roy-Gagnon, Alexandre Bureau, Alexandre
Alcaïs and
Hélène Vézina
Time: 8:00 - 17:00
Place: Room 1
· We will first briefly introduce concepts and designs to study
familial
aggregation followed by basic principles of linkage and association
analysis
for qualitative traits. Topics covered will include designs and
analytical
methods used to study genetic linkage. Both parametric and non-
parametric
linkage analysis will be covered. Presentation of the concepts will be
followed by a computer lab application using real data and currently
available software such as MLB and MERLIN.
· The second part of the lecture will cover designs and analytic
methods
for genetic association studies. Methods to investigate direct
(candidate
locus) and indirect (linkage disequilibrium mapping) associations with
human
disease will be introduced. Both family-based and population based
designs
will be presented.
· Presentation of the concepts will be followed by a computer lab
application using real data and currently available software such as
FBAT.
· Finally, a brief introduction to web resources will be presented,
including databases useful in genetic epidemiology studies, an
introduction
to the BALSAC genealogical resource and presentation of existing tools
for
their analysis.
Day 3 -June 3rd
(Concurrent Sessions - lectures and computer labs - followed by invited
lecture)
Advanced Concepts in Population Genomics
Instructors: Lluis Quintana-Murci and Luis B. Barreiro
Time: 8:00 - 16:15
Place: Room 1
· Simulation approaches (e.g. ABC, best-fitting) how we can infer
demography from genetic data.
· Methods in population genetics and hands-on lab
o Quality control of the data (e.g. test for HW equilibrium)
o Haplotype reconstruction using Phase o Methods to detect selection
from
molecular data
o Description of interspecies neutrality tests (e.g. dn/ds)
o Sequence-based neutrality tests
o Population differentiation methods (i.e. Fst approaches)
o LD-based methods
Advanced Concepts in Genetic Epidemiology and Statistical Genetics
Instructors: Marie-Hélène Roy-Gagnon, Alexandre Bureau and Alexandre
Alcaïs
Time: 8:00 - 16:15
Place: Room 2
· Data quality control (pedigree and genotyping error checks)
· Introduction to quantitative genetics theory and linkage and
association analysis for quantitative traits I
· Introduction to quantitative genetics theory and linkage and
association analysis for quantitative traits II
· Haplotype analysis
Invited Lecture
Speaker: to be determined
Time: 16:15 - 17:00
Place: Room 1
Day 4 -June 4th
(Concurrent Sessions - lectures and computer labs)
Advanced Concepts in Population Genomics
Instructors: Lluís Quintana-Murci, Luis B. Barreiro, Philip Awadalla,
Nicolas Lartillot
Time: 8:00 - 17:00
Place: Room 1
· Analysis of signatures of selection in genomic data - applications
o Analysis of real data on which students will perform all different
types
of neutrality tests
o Practical examples of natural selection in humans, and its utility in
epidemiology o Extensions of The Coalescent in Population Genetics
o Coalescent theory, extensions to theory in population genetics that
include making model-based inferences about population structure and
recombination will be introduced
o A short introduction to practical application of tools using
coalescent
theory to make inferences about demography, inferences in the context of
mapping disease loci and mutations and rates of crossing-over from data
o Likelihood and Bayesian methods applied to population genetics:
Linkage
disequilibrium mapping, Poisson random fields.
o Prolonging the coalescent: the ancestral process, molecular
evolution and
its relevance to human population genomics.
Advanced Concepts in Genetic Epidemiology and Statistical Genetics
Instructors: Marie-Hélène Roy-Gagnon, Alexandre Bureau and Alexandre
Alcaïs
Time: 8:00 - 17:00
Place: Room 2
· Gene-gene and gene-environment interactions I
· Gene-gene and gene-environment interactions II
· Design and analysis of genome-wide association studies I
· Design and analysis of genome-wide association studies II
Damian Labuda, Ph.D., D.Sc.
Professor, Pediatrics Department, Montreal University
Sainte-Justine Hospital Research Center, room B-607 b
3175 Cote Sainte-Catherine
Montreal, PQ
Canada H3T 1C5
tel: (514) 345-4931 ext.3586 [sec. 3282] fax: (514) 345-4731
damian.labuda@umontreal.ca [ more ]
