Author:
Zhang Yuhua,McInnis Melvin G.,Zöllner Sebastian
Abstract
AbstractThe methods and technologies behind the analyses of genetic data and information have advanced considerably since the identification and expansion of DNA sequence-based markers, genotypes, that map the human genome. The capacity for generating large numbers of genotypes have provided a base for developing innovative methods of analysis. The approach has shifted from family-based linkage analyses to population-based association analyses and emerging results have opened new directions for inquiry. In disorders with non-Mendelian inheritance, tens to hundreds of susceptibility loci have been identified, and methods adapted to assess a polygenic risk score are being tested. Methods for estimating epigenetic influences on gene expression are actively being developed and tested. The mitochondria are an exciting frontier in the search for causality. As current methods and technologies are considered, there is momentum and innovation driving the process. Emerging data and results demand new approaches, which create new data and results.