March 3, 2017

Vincent Plagnol: Mendelian Disorders: Transitioning from the Obvious to the Uncertain. #egsym15

Continuing with the abstract series covering the topics at the Eagle Symposium 2015, this summary has been kindly provided by Vincent Plagnol, Head of Computational Biology  at Inivata and reader at University College London (UCL) , who will be addressing the subject of "Mendelian Disorders: Transitioning from the Obvious to the Uncertain."

Abstract: " Mendelian disorders analysis has been revolutionized by the advent of high throughput DNA sequencing technologies. This has led to the rapid identification of multiple disease genes. However, as we progress past these initial discoveries and the pool of large well defined families with clear inheritance pattern shrinks, the focus of the field shifts to the remaining set of oligogenic conditions. For these disorders, rather than a single variant or gene, it is instead a set of large effect size variants that, together, lead to disease.

This transition raises two major issues. The first one, predominantly technical, consists of overcoming the limits of short read DNA sequencing technologies, that still generate a significant number of sequencing artifacts easily misinterpreted as genetic risk factors. The second issue relates to variant interpretation in large datasets, and the difficulty of interpreting alleles that are only moderately enriched in cases, in particular in the context of incidental findings reporting.
I will illustrate these challenges using exome sequence data gathered at University College London, in particular from a large Jewish Hasidic London based family with a higher than expected frequency of inflammatory bowel disease (IBD). "

Vincent Plagnol, UCL and Inivata Vincent Plagnol, Head of Computational Biology at Inivata and reader at UCL

Speaker's Bio: Vincent was educated in Paris, France, where he obtained his Bachelor of Mathematics at the Ecole Normale Supérieure and an MSc in Theoretical Probability. After completing his PhD in Applied Mathematics and Computational Biology at the University of Southern California, he moved to the Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory at the University of Cambridge, England in 2006 to study the genetics of autoimmune disorders, in particular type 1 diabetes. Following this postdoc in Cambridge, he became a Lecturer (2009), and then a Reader (2013), in Statistical Genetics at the University College London (UCL) Genetics Institute (UGI).

At the UGI he leads a computational research group working at the intersection between statistics, computer science and genetics, with a focus on translational research, in particular rare disease genetics and non-invasive prenatal diagnostics based on cell-free fetal DNA. In 2014, he also took the additional role of Head of Computational Biology for Inivata, a Cambridge based cancer genomics startup.

Eagle Symposium 2015:  Eagle Genomics organises an annual industry symposium 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: academia, Bioinformatics, bioinformatics impact, Blog, disease, disease analysis, Eagle symposium, talks, UCL, Vincent Plagnol