Understanding which events and processes induce variations of the classical imaging presentations and knowing to distinguish normal variants and identify signs of an aggressive process are the key to a correct diagnostic algorithm.
We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk.
Whole genome sequencing data are also included for predicting pathway activity associated variants and identifying metabolic engineering targets.
This allowed alignment of PCR products against PAQR5b to establish exon composition and distinguish between splice variants and identify missing exons.
Furthermore, VASP uses parental allele segregation patterns to determine phasing of variants and identifies genomic blocks common to affected pedigree individuals.
The recent success of these approaches to both characterize newly discovered AD risk variants and identify novel risk variants suggests that the use of endophenotypes is an important part of the ongoing effort to solve the genetic architecture of AD.
We consider the latest approaches for evaluating enhancer variants and identifying their gene targets, and highlight successful cases in which risk variants have been shown to alter gene expression by disrupting enhancer function.
