392183 SNiPology (S) (SoSe 2012)

Single Nucleotide Polymorphisms (SNPs) constitute the major form of variation in the human genome.
Data about SNPs are collected in many large-scale, international efforts. Current estimates speak of
one SNP per 1000 bases in a human genome, accounting only for those which are frequent in the population.
The interest in SNPs stems from the fact that SNPs can direct medical research to genes or pathways
related to disease, and sometimes may be causative for disease themselves. Linkage between SNPs,
alleles and diseases is studied in genome-wide association (GWA) studies.

After making us familiar with the specific terminology in this field, in this seminar we will address
three topics:
- The design, intent, and results of GWA studies which collect such data. Which
diseases are under study? How is a significant association determined?
- The data bases which make such information available (NCBI, HApMap, HGMD).
What is the added value they contribute, what is their public/commercial
model and long-term perspective?
- Algorithmic issues related to SNPs, such as genomic haplotyping or predicting
impact of SNP types in coding and non-coding regions.