Nicky Whiffin
Research groups
Nicky Whiffin
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.
Recent publications
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2022 Curt Stern Award introduction: Heidi Rehm
Journal article
Whiffin N., (2023), The American Journal of Human Genetics, 110, 409 - 409
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Journal article
Hoorntje ET. et al, (2022), Circulation. Genomic and precision medicine
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Journal article
Ellingford JM. et al, (2022), Genome medicine, 14
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Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery
Preprint
Zhang X. et al, (2022)
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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Journal article
Rowlands CF. et al, (2022), The American Journal of Human Genetics