High-throughput medical resequencing of candidate disease genes and genomic regions
Diseases like intellectual disability, blindness, deafness and various forms of cancer have extensively been studied in the last decade and many causative and candidate genes and loci for these disorders have been identified. The challenge now is to screen large cohorts of these patients for up to 1000 genes or loci that may harbour causative mutations. Recent advances in sequencing technologies have dramatically increased the speed and throughput capacities of DNA sequencing and, as a corollary, reduced the costs per nucleotide. For most medical applications a targeted analysis of candidate genes or genomic regions is likely to be applied, as this will facilitate functional interpretation of sequence variations and overcome limitations in computational power as well as ethical restrictions.
This project aims to optimize and apply novel "whole genome" resequencing technology to the study of monogenic diseases with locus heterogeneity.
In this project apply 2nd generation sequencing to large patient cohorts for two different purposes:
- Medical resequencing of candidate genes and genomic loci in monogenic disease
- Sequence-based detection and characterization of structural and numerical genomic variations