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.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC. et al, (2023), medRxiv
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M. et al, (2023), Eur Heart J
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank
Lassen FH. et al, (2023)
Not all exons are protein coding: Addressing a common misconception
Aspden JL. et al, (2023), Cell Genomics, 3, 100296 - 100296
2022 Curt Stern Award introduction: Heidi Rehm.
Whiffin N., (2023), Am J Hum Genet, 110