Skip to main content
The William Harvey Research Institute - Faculty of Medicine and Dentistry

Dr Claudia Cabrera

Senior Lecturer in Bioinformatics

Centre: Clinical Pharmacology and Precision Medicine

Email: c.cabrera@qmul.ac.uk
Telephone: +44 (0) 2078 822 105
Twitter: @ClauPCabrera

Research

Development and application of bioinformatics tools and methodologies for a better understanding of complex traits and diseases. Areas of research include genetical genomics data analysis of hypertension and cardiovascular diseases, response to trauma (injury), and paediatric endocrinology among others.

Analysis and annotation of high-throughput data :

  • Whole genome sequencing
  • Exome sequencing
  • RNA-Seq
  • Genome-wide association studies
  • Microarray analysis

Software development: genomicper (CRAN)

Circular genomic permutation approach uses GWAS results to establish the significance of pathway/gene-set associations whilst accounting for genomic structure. All SNPs in the GWAS are placed in a 'circular genome' according to their location. Then the complete set of SNP association p-values are permuted by rotation with respect to the SNPs' genomic locations. Two testing frameworks are available: permutations at the gene level, and permutations at the SNP level. The permutation at the gene level uses fisher's combination test to calculate a single gene p-value, followed by the hypergeometric test. The SNP count methodology maps each SNP to pathways/gene-sets and calculates the proportion of SNPs for the real and the permutated datasets above a pre-defined threshold. Genomicper requires a matrix of GWAS association p-values. The SNPs annotation and pathways annotations can be performed within the package or provided by the user.

Funding

NIHR Barts Cardiovascular Biomedical Research Centre

Back to top