Associate Professor Nicola Whiffin
Contact information
Nicky Whiffin
Associate Professor and Sir Henry Dale Fellow
Nicky is an Associate Professor and Sir Henry Dale Fellow, at the Big Data Institute and Wellcome Centre for Human Genetics at the University of Oxford. She is also a Research Fellow at St Anne’s College and a visiting scientist at 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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Regional nonsense constraint offers clinical and biological insights into rare genetic disorders
Preprint
Blakes A. et al, (2024)
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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Journal article
Lord J. et al, (2024), Genet Med, 26
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Improving estimates of loss-of-function constraint for short genes.
Journal article
Whiffin N., (2024), Nat Genet
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature
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Modulation of prion protein expression through cryptic splice site manipulation.
Journal article
Gentile JE. et al, (2024), J Biol Chem