Genomes and Genes
Affiliation: University of Southampton
- Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genesKatja Christodoulou
Genetic Epidemiology and Genomic Informatics Group, Human Genetics and Genomic Medicine, University of Southampton, University Hospital Southampton NHS Foundation Trust, Southampton, UK
Gut 62:977-84. 2013..Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group...
- Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocolDiana Eccles
Somers Cancer Sciences Building Mail Point 824, Southampton University Hospitals NHS Trust, Tremona Road, Southampton SO16 6YA, UK
BMC Cancer 7:160. 2007..The primary aim of the POSH study is to establish whether genetic status influences the prognosis of primary breast cancer independently of known prognostic factors...
- Composite likelihood-based meta-analysis of breast cancer association studiesIoannis Politopoulos
Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hampshire, UK
J Hum Genet 56:377-82. 2011..The PIK3AP1 gene region is highlighted in this analysis as a strong candidate for further study...
- Genome-wide association of breast cancer: composite likelihood with imputed genotypesIoannis Politopoulos
Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hants, UK
Eur J Hum Genet 19:194-9. 2011..Meta-analysis, which combines weighted evidence from composite likelihood in different samples, and refines putative disease locations, is facilitated through defining fixed regions on an underlying LD map...
- Determination of a gene and environment risk model for age-related macular degenerationJane Gibson
Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division, Southampton General Hospital, Southampton, UK
Br J Ophthalmol 94:1382-7. 2010..In the current study we interrogated the genomic region in linkage disequilibrium (LD) with the SERPING1 gene, and modelled the contribution to disease of known genetic and environmental AMD risk factors...
- Support Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancerRosanna Upstill-Goddard
Human Genetics and Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
PLoS ONE 8:e68606. 2013..Functional classification of the genes involved identifies enrichment of functions linked to the immune system, which is consistent with the current understanding of the biological role of estrogen receptors in breast cancer. ..
- Genome-wide association study of primary open angle glaucoma risk and quantitative traitsJane Gibson
Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, UK
Mol Vis 18:1083-92. 2012..Few genes have been detected that influence POAG susceptibility and other genes are therefore likely to be involved. We analyzed carefully characterized POAG cases in a genome-wide association study (GWAS)...
- Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to diseaseJane Gibson
Genetic Epidemiology and Genomic Informatics Group, Human Genetics, University of Southampton, Southampton General Hospital, Southampton, UK
Hum Genet 132:233-43. 2013..Mutations in these genes may less likely lead to in utero lethality and be subject to less intense selection...
- Age-related macular degeneration and modification of systemic complement factor H production through liver transplantationSamir Khandhadia
Clinical and Experimental Sciences, Clinical Neurosciences, Faculty of Medicine, University of Southampton, Southampton, UK
Ophthalmology 120:1612-8. 2013..To investigate whether modification of liver complement factor H (CFH) production, by alteration of liver CFH Y402H genotype through liver transplantation (LT), influences the development of age-related macular degeneration (AMD)...
- Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control studySarah Ennis
Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division MP 808, Southampton General Hospital, Southampton, UK
Lancet 372:1828-34. 2008..Variants in complement 3 (C3) and an HLA locus containing both factor B and C2 genes have also been implicated. We aimed to identify further genetic risk factors for this disease...
- Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN StudyAndrew J Lotery
Clinical Neurosciences Research Group, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom Electronic address
Ophthalmology 120:2637-43. 2013..The objectives were to replicate 3 reported pharmacogenetic associations of response in nAMD and to test for novel associations...
- The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancerWilliam Tapper
Human Genetics and Cancer Sciences Divisions, School of Medicine, Southampton General Hospital, University of Southampton, Southampton, SO16 6YD, UK
Breast Cancer Res 10:R108. 2008..Common variants that alter breast cancer risk are being discovered. Here, we determine how these variants influence breast cancer prognosis, risk and tumour characteristics...
- Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphomaMarina Parry
Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
PLoS ONE 8:e83244. 2013..Ultimately, this work will help to establish a stratified approach to care including the possibility of targeted therapy. ..
- Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variantJane Gibson
Genetic Epidemiology and Genomic Informatics Group, Faculty of Medicine, University of Southampton, Southampton, UK
Genet Res (Camb) 95:165-73. 2013..In this family, we were able to confirm a diagnosis of Alport syndrome, which will facilitate testing in other family members...
- Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutationsWilliam J Tapper
Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom
PLoS ONE 9:e86940. 2014..We therefore recommend non-default settings of the AFS in combination with stringent quality control when searching for causal mutation(s) that could have low levels of mutant reads due to post-zygotic mutation. ..