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Genome-wide association studies, fall 2012


Questions in advance: Sirkka-Liisa Varvio

Scope and type

2 cu, advanced studies


Basic probabilistics and interest in bio-applications of statistics.
This course is suitable for students with planned orientation to biometry and bioinformatics and also for other students interested in biological applications of statistical inference.
In Bioinformatics Master´s program (MBI) this is the 5th module in the compulsory course Statistical genetics


Wednesday 7.11, 14-18, D123, Exactum, Kumpula
Statistical concepts in a nutshell.pdf
Basic concepts in genetics and home-exercise 1.pdf
• Review: Linkage disequilibrium.pdf

Tuesday 4.12, 14-18, CK112 and Wednesday 5.12, 14-18, C128.
Teachers: Samuli Ripatti and Matti Pirinen from FIMM

Human Genetics and Biostatistics
Heritability - Linkage studies - Association studies - Genotyping technologies - Quality control
Statistics of association mapping (significance and power vs. priors and evidence)
Examples of real studies - Recent topics in GWAS world (e.g. missing heritability, synthetic associations,...)
Why do we think that certain phenotype has a genetic component?
How does gene mapping work with family data and how does it work with population data?
What kind of data modern genotyping technologies produce and how to analyse them?
What have we learned during the last five years from genome-wide association studies?
And what have we not learned so far?

Tue 04.12, 14-18, CK112
• Lecture: GWAS_041212.pdf
• Reviews: Anderson_et al_2010.pdf, Risch_2000.pdf

Wed 05.12, 14-18, C128
• Lecture: GWAS_1_051212.pdf, GWAS_2_051212.pdf
R_matrix_80_Europeans.txt, GWAS_examples.R
• Literature here:
• Assignment TBA later and to be done during January 2013 => exam + this assignment = 2cr from GWAS-minicourse


Tuesday 11.12 or Wednesday 12.12, 14-18, C128. Note that you have access to all course material  in exam.
Your choice for the exam, inform here: exam-DOODLE


This registration link is only for those taking this GWAS-minicourse as a separate 2cr course.
If you participate also the course Statistical genetics, then your registration to that course is enough also for GWAS-minicourse and you should not make a double registration.

Did you forget to register? What to do.

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