publication . Article . Other literature type . 2004

The future of association studies: gene-based analysis and replication.

Neale, BM; Sham, PC;
Open Access English
  • Published: 01 Sep 2004 Journal: The American Journal of Human Genetics, issue 3, pages 353-362 (issn: 00029297, Copyright policy)
  • Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
  • Country: China (People's Republic of)
Historically, association tests were limited to single variants, so that the allele was considered the basic unit for association testing. As marker density increases and indirect approaches are used to assess association through linkage disequilibrium, association is now frequently considered at the haplotypic level. We suggest that there are difficulties in replicating association findings at the single-nucleotide-polymorphism (SNP) or the haplotype level, and we propose a shift toward a gene-based approach in which all common variation within a candidate gene is considered jointly. Inconsistencies arising from population differences are more readily resolved ...
free text keywords: Genetics(clinical), Genetics, Perspective, Models, Genetic, Genetic Predisposition to Disease, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Variation (Genetics)
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