Guest commentary on chapter 4: Integrative approaches to genotype-phenotype association discovery

Ana Dopazo

Genomics Unit, CNIC, E-28029, Madrid, Spain

This commentary focuses on the utility of integrative genomics approaches for refining our understanding of genotype-phenotype associations, specifically through the use of global gene expression analyses as a complementary approach to DNA variation studies for the identification of new clinical biomarkers.

As discussed in Chapter 4, over the last few years, new approaches to genetic mapping have yielded great progress towards the mapping of loci involved in susceptibility to common human diseases. However, although improved genetic mapping and the amount of DNA variance explained will continue to grow in the coming years, many of the genes and mutations underlying these findings still remain to be identified and the genotype-phenotype correlation in most diseases, both monogenic and common complex diseases, has yet to be well characterized.

Thus, although comprehensive genome-wide DNA analyses are now possible and additional work is underway, this only represents a first step forward towards a better biological understanding and clinical applications. To pursue this challenging task there is room for useful tools such as genome-wide expression studies. Indeed, although association methods can define regions in the genome containing the genetic variants underlying pathological processes and other phenotypes, on their own they ...

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