March 3, 2017

Clinical Sequencing: What Can We Measure and How Can it Go Wrong?

This is the second post of an abstract series, and a taster of one of the topics at the Eagle Symposium 2015 kindly provided by Simon Andrews, Head of Bioinformatics at The Babraham Institute addressing the subject of "Clinical Sequencing. What Can We Measure and How Can it Go Wrong?"

Abstract: "High throughput sequencing is now a core technology within most biological research fields and has matured to a point where the automated collection and analysis of data is feasible without a detailed review of each individual sample.  Whilst sequencing is generally consistent and reliable, there are still a large number of ways in which this type of experiment can go wrong - sometimes catastrophically, but often in more subtle ways.  A major part of any large scale automated sequencing pipeline must therefore be a robust and comprehensive Quality Control (QC) regime to try to identify samples which behave unusually, so they can be flagged for individual review.  In my talk we will look at the challenges that this type of monitoring presents and the types of solution which exist and are being developed."



Simon Andrews WebsiteSpeaker's Bio: Simon Andrews is the head of the bioinformatics core facility at the Babraham Institute.  His group is responsible for providing the core infrastructure required to run the high throughput pipelines coming from services such as sequencing, imaging and proteomics.  In addition, they provide support and assistance in the analysis of all types of biological data to the institute's community of around 400 researchers.  In recent years much of his group's research work has focused on the low level processing of high throughput sequencing data, through the development of QC tools such as FastQC and fastq screen, and specialised mapping pipelines such as Bismark for bisulphite sequence data and HiCUP for Hi-C data.  He also has an interest in data visualisation and the accessibility of analysis to bench biologists, which has resulted in the development of the SeqMonk sequence analysis platform.

Eagle Symposium 2015:  Eagle Genomics organises an annual industry symposium for the active engagement of scientific professionals in the promotion of innovation and advancement in genomics, bioinformatics, and computational biology to help address global issues. The Eagle Symposium 2015 builds on the theme "Bridging Biology and Informatics for R&D Innovation", taking place on 23 March 2015 at the European Bioinformatics Institute (EBI), Wellcome Trust Genome Campus in Hinxton, Cambridge, UK.



Topics: Babraham Institute, Bioinformatics, bioinformatics impact, Blog, Clinical Sequencing, computational biology, drug discovery, Eagle symposium, high throughput sequencing, quality control