Nicky Whiffin
Research groups
Nicky Whiffin
Associate Professor / Sir Henry Dale Fellow
Nicky is an Associate Professor and Group Leader at the Big Data Institute and the Wellcome Centre for Human Genetics funded by a Sir Henry Dale Fellowship from the Wellcome Trust and Royal Society. Nicky is also a visiting scientist at the Broad Institute of MIT and Harvard and a Research Fellow at St Anne's College and the Centre for Personalised Medicine.
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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Improving estimates of loss-of-function constraint for short genes
Journal article
Whiffin N., (2024), Nature Genetics
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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), Journal of Biological Chemistry, 107560 - 107560
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Preprint
Chen Y. et al, (2024)
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Journal article
Wieder N. et al, (2024), Genome biology, 25