Group Leader / Sir Henry Dale Fellow
Nicky joined the Wellcome Centre for Human Genetics as a Group Leader and Sir Henry Dale Fellow, supported by the Wellcome Trust and Royal Society, in Sept 2020. Nicky is also a visiting scientist at both the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard.
Nicky leads the Computational Rare Disease Genomics group, which uses computational approaches to interpret the role of genetic variants in rare diseases.
Nicky’s undergraduate degree was in Natural Sciences at the University of Cambridge before she studied for a PhD in genetic susceptibility to Colorectal Cancer at the Institute of Cancer Research in London. During her postdoctoral work at Imperial College London, she developed tools and methods to improve interpretation of variants identified in patients with Inherited Heart Conditions.
Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery
Zhang X. et al, (2022)
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Rowlands CF. et al, (2022), The American Journal of Human Genetics
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Whiffin N. et al, (2021), Nature Communications, 12
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (Nature Communications, (2020), 11, 1, (2539), 10.1038/s41467-019-12438-5)
Wang Q. et al, (2021), Nature Communications, 12
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C. et al, (2021), Genetics in medicine : official journal of the American College of Medical Genetics, 23, 2096 - 2104