Although I initially trained to be an archaeologist, I developed an interest in human genetics after working on the human and nematode genome projects as a technician, and retrained as a scientist.
I carry out research on the causes and consequences of de novo variation, and assemble cohorts of patient data for the discovery of rare disease genes in humans.
My timeline
Senior Staff Scientist, Genome Mutation and Genetic Disease, Wellcome Trust Sanger Institute.
Staff Scientist, Genome Mutation and Genetic Disease, Wellcome Trust Sanger Institute.
Postdoctoral Researcher, Genome Dynamics and Evolution, Wellcome Trust Sanger Institute.
Research Associate, Sequencing Research and Development, Wellcome Trust Sanger Institute.
PhD, UMIST, "Genetic Diversity of Wild and Domesticated Wheats" with Professor T.A Brown
MSc Biomolecular Archaeology, UMIST
BA (Hons) Archaeology and Prehistory (University of Sheffield)
Quick links
Wellcome Sanger Institute
My publications
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Figure from “A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination” where we explored the how the local architecture of SNVs could be inform us on the mutational mechanisms involved in NAHR (nonallelic homologous recombination).
Extensive and careful discovery, validation, and haplotyping of de novo mutations in two trios allowed us to report the germline mutation rate. From “Variation in genome-wide mutation rates within and between human families.”
