Senior Lecturer | Cardiff University | United Kingdom
Dr. Hywel J. Williams is a distinguished academic and researcher currently serving as a Senior Lecturer in Bioinformatics: Genetic and Genomic Medicine in the Division of Cancer and Genetics, School of Medicine, Cardiff University, since 2019. He holds a Ph.D. in Genetics from Cardiff University (2001–2005), where his research focused on identifying schizophrenia susceptibility genes on chromosome 22 under the supervision of Prof. Sir Michael J. Owen. His earlier academic qualifications include a B.Sc. (Hons) in Genetics from Cardiff University (1994–1996) and an HND in Applied Biology from the University of Wales Institute Cardiff (1992–1994). Dr. Williams also earned recognition as an Associate Fellow of the Higher Education Academy in 2018. With over two decades of research experience, his career spans roles such as Senior Research Associate at UCL’s Great Ormond Street Institute of Child Health (2013–2018), and various research positions at Cardiff University from 1997 to 2012. His work integrates bioinformatics, genomics, and molecular genetics, with a primary focus on rare diseases, psychiatric genetics, and genomic medicine. His key contributions include joint first authorship of the landmark study “The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare” published in the New England Journal of Medicine (2021), and senior authorship in studies enhancing rapid pediatric sequencing and understanding of genetic disorders. Dr. Williams possesses advanced research skills in genomic data analysis, variant interpretation, computational biology, and multi-omic integration, contributing to the clinical translation of genome sequencing technologies. With an outstanding academic record—over 19,000 citations, an h-index of 56, and an i10-index of 101—he is recognized for his influential work in genomic research and data-driven healthcare. His career reflects a commitment to improving diagnostic accuracy and patient care through innovative bioinformatics approaches, making him a key contributor to the global advancement of precision and personalized medicine.
Profiles: Google Scholar | Scopus | ORCID | ResearchGate | LinkedIn
Featured Publications
-
Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O’Donovan, M. C., Sullivan, P. F., Williams, H. J., et al. (2009). Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature, 460(7256), 748–752. https://doi.org/10.1038/nature08185 Cited by: 5,521
-
Schizophrenia Working Group of the Psychiatric Genomics Consortium. (2011). Genome-wide association study identifies five new schizophrenia loci. Nature Genetics, 43(10), 969–976. https://doi.org/10.1038/ng.940 Cited by: 2,110
-
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., et al. (2014). De novo mutations in schizophrenia implicate synaptic networks. Nature, 506(7487), 179–184. https://doi.org/10.1038/nature12929 Cited by: 1,920
-
O’Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., et al. (2008). Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics, 40(9), 1053–1055. https://doi.org/10.1038/ng.201 Cited by: 1,327
-
100,000 Genomes Project Pilot Investigators (including Williams, H. J.). (2021). 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report. New England Journal of Medicine, 385(20), 1868–1880. https://doi.org/10.1056/NEJMoa2035790 Cited by: 657
