Nicky is an Imperial College Research Fellow within the Cardiovascular Genetics and Genomics team, using bioinformatics and large genomic datasets to study the contribution of rare variants to human disease.
Nicky's current research uses sequence constraint in large reference datasets to identify deleterious variants in non-coding regions with effects on translation efficiency and a role in (cardiovascular) disease.
Other areas of interest include:
- Using large reference datasets to identify variants too common to cause disease
- Increasing consistency and reproducibility in interpretation of genetic variants associated with inherited cardiac conditions (ICCs; cardioclassifier.org)
Prior to her current role, Nicky led development of bioinformatics infrastructure to establish a new clinical diagnostic service for ICCs within the Royal Brompton Hospital, using next-generation sequencing (NGS).
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, working with Professor Richard Houlston. This work involved imputation and meta-analysis of genome-wide association 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.
et al., 2018, CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:1246-1254
et al., 2018, Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:351-359
et al., 2017, Using high-resolution variant frequencies to empower clinical genome interpretation, Genetics in Medicine, Vol:19, ISSN:1098-3600, Pages:1151-1158
et al., 2017, Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy, Journal of the American College of Cardiology, Vol:69, ISSN:0735-1097, Pages:2466-2468
et al., 2016, Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Journal of Cardiovascular Translational Research, Vol:9, ISSN:1937-5387, Pages:3-11
et al., 2014, Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis, Human Molecular Genetics, Vol:23, ISSN:0964-6906, Pages:4729-4737
et al., 2014, Putative cis-regulatory drivers in colorectal cancer, Nature, Vol:512, ISSN:0028-0836, Pages:87-90
et al., 2013, Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer, Human Molecular Genetics, Vol:22, ISSN:0964-6906, Pages:5075-5082