Introduction to identifying and characterising variants from NGS data

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Introduction to identifying and characterising variants from NGS data 

4th/5th June, Sheffield

Healthcare systems around the globe are transforming medical practice to incorporate genetic variation as a vital information used for diagnosis and treatment planning. Genome sequencing technologies allow us to detect all variants in a patient’s genome and international collaborative efforts such as The 100,000 Genomes Project, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) have begun to catalogue and release data on genomic variation in a variety of disease types.

However, such datasets pose new challenges in the way the data have to be analyzed, annotated and interpreted which are not trivial and are daunting to the clinician or biomedical scientist. This course covers state-of-the-art and best-practice tools for the analysis of genomes. It describes, and gives hands-on experience of the entire analysis workflow from raw data generated by a sequencing machine to deriving variant calls (e.g. SingleH Nucleotide Variants) that are ready for downstream analysis, interpretation and prioritisation.

The course will describe the steps involved to go from sequencing library to a prioritised, clinically-relevant list of DNA variants. Practical sessions will use the user-friendly Galaxy interface ( to demonstrate tasks such as alignment, quality control, variant-calling and annotation.

For more information, and to book, please click here

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