BDRC SEMINAR SERIES
Hywell Williams
Developmental Biology & Cancer Programme, ICH
22nd January 2016, 1pm
June Lloyd Seminar Room (PUW4)
GOSgene: The use of genomics in paediatric rare
disease research
Abstract
GOSgene is a multidisciplinary group that aims to identify the causative genetic variants in
children with rare undiagnosed diseases, predominately from Great Ormond Street
Hospital. Founded in 2010 we have performed whole exome sequencing on greater than
850 individuals covering more than 80 separate clinical phenotypes.
To identify causative variants from this data we use a combination of commercial software
and public databases to filter our variants according to a number of parameters related to
the frequency, function and the expected inheritance pattern of the variant. Through this
analysis pipeline we have been able to identify candidate genes in around 50% of our
projects, with known and novel genes represented equally.
Biosketch
Hywel Williams leads the GOSgene group, part of the Centre for Translational Omics at the
UCL Institute of Child Health. He began his scientific career, obtaining both undergraduate
and graduate degrees from Cardiff University, where he worked on the genetic basis of
schizophrenia. In 2013 he joined GOSgene where his work shifted to the use of NGS in gene
identification for rare childhood diseases. Here his work has already led to the identification
of a number of novel disease genes, such as SNX14 that led to the classification of a new
clinical syndrome. His research interests are now focused on the use of whole genome and
multi-omic datasets and their interpretation using higher order bioinformatics tools.