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This special issue of Human Heredity discusses a wide range of current topics related to genetic disease association analysis. Topics covered include phenotype definition, genotype-phenotype correlation, and strategies for managing phenotypic data, multipoint methods for genotype error detection, as well as the robustness of genomic control methods for case/control association in admixed populations. Further addressed are the relative costs for different types of genotype errors in genetic model-based association, a comprehensive review of optimal SNP marker selection in disease association, and the comparative information of multiple SNPs and single microsatellites. Anyone involved in complex genetic research, i.e. clinicians, geneticists and statistical geneticists, will find guidance on study design, on how to evaluate phenotypes used in linkage and association findings, and on how to avoid pitfalls that typically arise in genetic studies.
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