A5062899510- Genomic variations and chromosomal abnormalities
- Identification and Quantification in Food
- Genomics and Rare Diseases
- Fish Ecology and Management Studies
- RNA and protein synthesis mechanisms
- Family Support in Illness
- Oral microbiology and periodontitis research
- Environmental DNA in Biodiversity Studies
- Williams Syndrome Research
- Ichthyology and Marine Biology
- Isotope Analysis in Ecology
- Oral Health Pathology and Treatment
- Genetic Associations and Epidemiology
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Head and Neck Cancer Studies
Churchill Hospital
2020
University of Oxford
2019
National Health Service
2019
Oxford University Hospitals NHS Trust
2018
Leatherhead Food Research
2004-2005
Newcastle University
2005
Identification of 10 white fish species associated with U.K. food products was achieved using PCR−RFLP the mitochondrial cytochrome b gene. Use lab-on-a-chip capillary electrophoresis for end-point analysis enabled accurate sizing DNA fragments and identification at a level 5% (w/w) in admixture. One restriction enzyme, DdeI, allowed discrimination eight species. When combined NlaIII HaeIII, specific profiles all were generated. The method applied to range subjected an interlaboratory study...
Background: The common intronic deletion, MYBPC3 Δ25 , detected in 4% to 8% of South Asian populations, is reported be associated with cardiomyopathy, ≈7-fold increased risk disease variant carriers. Here, we examine the contribution hypertrophic cardiomyopathy (HCM) a large patient cohort. Methods: Sequence data from 2 HCM cohorts (n=5393) was analyzed determine frequency and co-occurrence pathogenic variants genes. Case-control haplotype analyses were performed compare frequencies assess...
As part of a student elective, this pilot study aimed at investigating attitudes and practices concerning gutka use in town India. It was hoped that information gained would assist formulating an appropriate health education programme to encourage cessation locally provide more about habit which is also relevant some UK South Asian populations.124 consecutively attending subjects (103 males 21 females) charity-run dental clinic Chitrakoot, India, were interviewed using semi-structured...
Recent work by Shah and colleagues demonstrated that many variants in the ClinVar database are misclassified, disease-specific allele frequency (AF) thresholds can identify wrongly classified alleles flagging too prevalent population to be causative of rare penetrant disease. While we agree with main conclusions this work, authors compare their AF filtering approach our recently published method, concluding method advanced 9may prone removing potentially pathogenic variants9. This is...