Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery

AUTOR(ES)

McCarthy, Mark I

FONTE

BioMed Central

RESUMO

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.

Documentos Relacionados

• Exploring the unknown: The silent revolution of microbiology
• Flowing into the unknown: inferred paleodrainages for studying the ichthyofauna of Brazilian coastal rivers
• Search and Discovery Strategies for Biotechnology: the Paradigm Shift
• NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant
• The discovery of susceptibility genes for mental disorders