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.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET. et al, (2022), Circulation. Genomic and precision medicine
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM. et al, (2022), Genome medicine, 14
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), American journal of human genetics, 109, 210 - 222
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