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Nicky Whiffin

Researcher
Faculty of Medicine
National Heart Lung Institute
United Kingdom

Biography

Nicky is a Bioinformatics Research Associate within the Cardiovascular Genetics and Genomics group, working on the large-scale analysis and interpretation of sequencing datasets, with a particular focus on variant interpretation. Most recently, Nicky has been responsible for development of CardioClassifier (cardioclassifier.org), an automated and interactive web-tool to support disease specific interpretation of genetic variants in genes associated with inherited cardiac conditions (ICCs). Prior to this, Nicky was working to develop a diagnostic service for ICCs within the Royal Brompton Hospital, using next-generation sequencing (NGS). This work was supported by a Health Innovation Challenge Fund grant from the Department of Health and Wellcome Trust. Before joining Imperial, Nicky completed her PhD titled 'Identification and characterisation of susceptibility genes for colorectal cancer' at the Institute of Cancer Research in London, supervised by Professor Richard Houlston. This work involved imputation and meta-analysis of genome-wide assocation study (GWAS) data and analysis of exome sequencing data. Prior to this, Nicky studied for a BA in Natural Sciences (Genetics) at the University of Cambridge

Research Interest

Genetics

Publications

  • Whiffin N, Broderick P, Lubbe SJ, et al., 2011, MLH1-93G > A is a risk factor for MSI colorectal cancer, Carcinogenesis, Vol:32, ISSN:0143-3334, Pages:1157-1161

  • Al-Tassan NA, Whiffin N, Hosking FJ, et al., 2015, A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer, Scientific Reports, Vol:5, ISSN:2045-2322

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