Location & dates EMBL Heidelberg, Germany 16 - 19 Nov 2015
Deadlines Registration closed Abstract submission closed
organiser_stanford

Sophia Genetics Workshop

 Venue: EMBL Advanced Training Centre

Workshop Session 1: 15:45 – 16:45

NGS-based Diagnostics: How to achieve top analytical performance and guarantee quality 

by Dr Zhenyu Xu

Reliable variant identification based on NGS technology can be challenging in routine genetic diagnosis. Sufficient coverage of the target region is a well known prerequisite for accurate variant detection. However, there are other issues (for example, variants exposed to the end of reads, proper trimming of the primer sequences, special care of repetitive regions, etc.) that are less obvious but may be just as important to ensure correct variant identification. Understanding the limitation of the sequencing platform, the chemistry used for enrichment, the sequence context (targeted genes) as well as sample type is key to ensure an accurate analysis workflow. Questions such as how many samples should be multiplexed in a single run, what length of indel will be detected, what will be the limitations of the analysis, are often asked by routine diagnostic labs. Here I introduce the efforts that we made to tackle the different problems normally encountered in routine genetic testing using NGS. A particular example of variant identification in the FLT3gene will be mentioned. What types and length of FLT3tandem duplication can be detected will be discussed. Our analysis pipelines have been applied to a variety of sequencing platforms and several commercial enrichment kits (some of which are CE-IVD marked) ranging in size from 1 or 2 genes to > 4000 genes.