NGS - Next Generation Sequencing: Bioinformatics and Data Analysis 2013

The 1st Oxford Workshop and Symposium and 4th TECHGENE Knowledge Network Meeting on Next Generation Sequencing: Bioinformatics and Data Analysis

Next Generation Sequencing (NGS) bioinformatics resources are being widely implemented in NGS panel and NGS Exome sequencing in clinical genetic testing. Our NGS bioinformatics workshop & symposium is designed for medical genetic testing and services laboratories that look for rare mutations in human patient samples using NGS technologies, platforms and software. Both national health service genetic labs and private companies will benefit from this event by learning how leading laboratories are tackling the analysis and interpretation of NGS sequence data.

The aim of this event is to cover various aspects of NGS bioinformatics in a clinical setup, from general theoretical aspects to more specific “hands-on” approach. For this reason this 2-day event will comprise a symposium & a workshop, to give the participant a good in-depth view of NGS bioinformatics and latest developments from labs and software companies.

The workshop will consist of the following aspects:

• Familiarization with NGS variants & identification of pathogenic mutations for Mendelian disorders and the research use of NGS to identify new disease genes

• Learning about diagnostic applications of NGS & performing genetic diagnosis for a patient with a genetic disease; as well as familiarization with common practices in diagnostic interpretation of NGS data

• Performing diagnosis of a patient with intellectual disability based on the popular trio approach.

The workshop and symposium will be organized in partnership with leading European NGS labs, hospitals and private companies.