Anthony McGuigan
Genotype-Phenotype Association LeadAnthony McGuigan is a 4th-year PhD candidate in Genomic Medicine and Statistics at the University of Oxford.
His research focuses on integrated approaches to closing the diagnostic gap in unsolved rare disease cases, drawing on small variant, structural variant, RNA sequencing, and phenotypic data available in the NGRL. This includes novel disease gene discovery, identifying "knock-outs" of genes with no currently known disease association, and non-coding molecular diagnoses, through mapping homozygous deletions across the NGRL cohort to identify non-coding regions where sequence loss leads to disease.
He will be co-leading the Genotype-Phenotype Association community, which focuses on large-scale genotype-phenotype studies to uncover rare variants linked to traits and diseases.
