Abstract
Although the genomic sciences emerged from squarely within the biological sciences, genomics and biology often now seem almost strangers. Nowhere is this divide more striking, or more unfortunate, than in studies of the genetics of complex traits such as common human diseases.
Highlights
The genomic sciences emerged from squarely within the biological sciences, genomics and biology often seem almost strangers
Attempts at understanding the genetics of common diseases languished in candidate gene studies that identified risk alleles that were notorious for their reluctance to replicate an association in other studies, or in linkage peaks that either failed to replicate or failed to resolve to individual chromosomal loci
As recently as 2002, Glazier et al lamented the contrast between the rapid elucidation of the genetic bases of Mendelian diseases, which involve mutations in single genes, and the paltry returns for the complex, or multifactorial traits, including most common diseases [1], which involve obscure interactions between variant alleles at multiple genomic locations
Summary
The genomic sciences emerged from squarely within the biological sciences, genomics and biology often seem almost strangers. Attempts at understanding the genetics of common diseases languished in candidate gene studies that identified risk alleles (or gene variants) that were notorious for their reluctance to replicate an association in other studies, or in linkage peaks that either failed to replicate or failed to resolve to individual chromosomal loci. In most cases what has been identified is a genomic region with multiple polymorphisms showing some degree of association, but without any clarity about which variant in the region is causally responsible.
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