The Imperial BRC Genomics Facility was formed through a merger of the AHSC Clinical Genome Laboratory and the NIHR Imperial BRC Clinical Genome Informatics Facility, bringing together multidisciplinary expertise in genome sequencing and genomic data analysis. The facility is part of the Department of Medicine (Division of Diabetes, Endocrinology and Metabolism) and is funded by the NIHR through the Imperial Biomedical Research Centre as part of the Genetics and Genomics Theme lead by Professor Jorge Ferrer. Its mission is to support the use of genome technologies and information to translate new genomic discoveries into medical advances.
We provide a wide range of services covering every step of the next-generation sequencing (NGS) work flow, including:
- Experimental Design
- Library Preparation and QC
- Downstream Data Analysis
We have extensive experience across a wide range of NGS applications, including:
- Whole-genome, Whole-exome and Targeted re-sequencing
- Methylation Profiling
- Pathogen Sequencing
The facility runs an Illumina HiSeq 2500 sequencer for large-scale projects; an Illumina MiSeq for small-scale sequencing projects; and has equipment for library preparation, sample and library QC, and quantification. We have access to dedicated high-performance computing resources at the Imperial High Performance Computing Service and Data Centre. and maintain analysis pipelines for large-scale genomic datasets from a wide range of sequencing applications. These include variant detection, expression quantification, metagenomic profiling, and methylation analysis utilising cutting-edge bioinformatics algorithms and tools.
Furthermore, the Facility assists investigators with data interpretation. We provide tools and support for the prioritisation and reporting of genomic information for research and diagnostics. We train investigators in the interpretation of genomic information in a clinical context and maintain resources facilitating data interrogation, such as the Human Gene Mutation Database Professional and a local mirror of the UCSC Genome Browser.