From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research
Identifying disease-causing genes represents a major focus in current medical genetics research, and next-generation sequencing technology is profoundly changing the way of diagnostics and therapeutics. Coping with the underlying informational complexity requires multidisciplinary efforts that generate synergies through cross-disciplinary research at the nexus of medicine, biology, and informatics. It also requires stringent quality control covering the full path from sample preparation to bioinformatics variant calling. Christophe Roos, CSO at Euformatics will give a presentation on standardising quality control of the NGS pipeline and discuss the utility of various quality metrics based on best practice guidelines.