Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies. © 2009 BioMed Central Ltd.
CITATION STYLE
McCarthy, M. I. (2009, July 3). Exploring the unknown: Assumptions about allelic architecture and strategies for susceptibility variant discovery. Genome Medicine. https://doi.org/10.1186/gm66
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