ORCID – 0000-0003-4591-1214
I am a bioinformatician who has worked on the design, variant annotation, data handling, quality control, imputation and analysis of large genotyping projects such as iCOGS (http://www.nature.com/icogs/) and Oncoarray (http://epi.grants.cancer.gov/oncoarray/) . I am also a PhD student studying the contribution of germline copy number variation to breast cancer risk.
- Copy Number Variation (CNVs)
- Genotype calling
- Genetic variant annotation
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Michailidou et al. Nature Genetics 2015
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Michailidou et al. Nature Genetics 2013
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1. Meyer et al. American Journal of Human Genetics 2013
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Eeles et al. Nature Genetics 2013
Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk. Chornokur et al. PLoS One 2015
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Carvajal-Carmona et al. Human Genetics 2015
Shi, J. et al. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. Int J Cancer 139, 1303-17 (2016).
Glubb, D.M. et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am J Hum Genet 96, 5-20 (2015).
Mavaddat, N. et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst 107(2015).
Perry, J.R. et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 514, 92-7 (2014).