This chapter is a comprehensive review of quality control (QC) methods for SNP-based genotyping panels used in genome-wide association studies. These include QC on individuals for missingness, gender checks, duplicates and cryptic relatedness, population outliers, heterozygosity and inbreeding, and QC on SNPs for missingness, minor allele frequency and Hardy-Weinberg equilibrium. The emphasis i...

1 Department of Neurology, Singapore General Hospital, Singapore 2 National Neuroscience Institute, Singapore 3 Duke-NUS Graduate Medical School, Singapore Address for Correspondence: Dr Eng-King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608. Email: [email protected] Genetic testing is an important means to confi rm the diagnosis of an inheritable disea...

Recently, genome-wide association studies have substantially expanded our knowledge about genetic variants that influence the susceptibility to complex diseases. Although standard statistical tests for each single-nucleotide polymorphism (SNP) separately are able to capture main genetic effects, different approaches are necessary to identify SNPs that influence disease risk jointly or in comple...

Genetic epidemiological studies strongly suggest that additive and interactive genes, each with small effects, mediate the genetic vulnerability for schizophrenia. With the human genome working draft at hand, candidate gene (and ultimately large-scale genome-wide) association studies are gaining renewed interest in the effort to unravel the complex genetics of schizophrenia. Linkage and fine ma...

in this study, effect of two genotype imputation strategies, relatedness between reference panel and test populations and minor allele frequency on imputation error rate were examined with using a stochastic simulated population. reference panel and test populations were composed of 1,000 and 500 individuals, respectively. individuals in the reference panel were genotyped with using a high and ...