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From ~ 2000: Major developments in genetics knowledge and technology
Utility: GWAS to detect common variants underlying complex diseases
High through-put genotyping/sequencing
Genome-wide Association Studies (GWAS)
Genotype 100,000s common SNPs in 1000s of cases+controls
Quality-control analyses:
e.g. genotype calling, population biases; imputation
Identify significant associations (P<5x10-8)
Assess genomic info: genes, regions, etc
Genotype selected SNPs in different case+control samples of same population: replication and combined meta-analyses!
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PRECONGRESS COURSE 03 I VIENNA, AUSTRIA – 23 JUNE 2019 89