Nicola Whiffin
Associate Professor Wellcome Career Development Fellow
Oxford, England, United Kingdom
Summary
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Senior🎓
Top SchoolNicola Whiffin is an Associate Professor and Wellcome Career Development Fellow at the University of Oxford’s Big Data Institute and Centre for Human Genetics, driving computational genomics for rare diseases. She leads a research team focused on interpreting genetic variants, with emphasis on regulatory and non-coding regions and how modulating gene regulation can inform therapies. She is a recognized leader in annotation and interpretation of non-coding variants, including developing clinical guidelines to translate genomic insights into patient care. Her work with the Genomics England 100,000 Genomes Project dataset has highlighted roles for untranslated regions in rare disease and uncovered a striking role for the non-coding small nuclear RNA RNU4-2 in neurodevelopmental disorders. She was awarded the 2024 Lister Institute Research Prize and a Wellcome Career Development Award, reflecting her impact in the field. Based in Oxford, she collaborates with institutions including the Broad Institute and St Anne’s College, bridging academic research, clinical genomics, and translational efforts.
10 years of coding experience
4 years of employment as a software developer
Bachelor of Arts (B.A.), Natural Sciences, 2.i, Bachelor of Arts (B.A.), Natural Sciences, 2.i at University of CambridgeA levels in Maths, Further Maths, Physics and Chemistry and AS level in Biology, A levels in Maths, Further Maths, Physics and Chemistry and AS level in Biology at Trent College, Long Eaton
Github Skills (11)
filter5
genetic5
interpretation5
genomics3
guideline3
bioinformatics3
android3
javascript2
python2
browser1
singer1
Programming languages (4)
Github contributions (5)
ImperialCardioGenetics/uORFs
Feb 2019 - May 2020
Contributions:23 commits, 7 pushes, 2 comments in 1 year 3 months
macarthur-lab/gnomad_lrrk2
Mar 2019 - Aug 2019
Contributions:20 commits, 12 pushes in 5 months
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