The Bioinformatics Group led by Sanjeev Bhaskar, is a collaboration between the Manchester Biomedical Research Centre and the NHS department. It serves the needs of research teams and diagnostics for bioinformatic tools and services.
The group develops automated next generation sequencing analysis applications compliant with a CPA accredited service to improve data interpretation for clinical tests. The bioinformatic pipeline supports platform specific workflows from Solid 5500, HiSeq 2000 and MiSeq instruments.
The work of the group is supported by a £1.3m joint investment strategy jointly by Central Manchester University Hospitals NHS Foundation Trust and the University of Manchester. Our bioinformatics has been greatly enhanced by capital infrastructure in high performance computing operating within the secure healthcare environment giving a capability unique within the NHS.
This investment and integration with NHS infrastructure allows us to provide a dedicated clinical NGS service resulting in new and improved tests, quicker results and reduced costs.
Recent output includes:
- Familial breast cancer testing (BRCA1 and 2) - facilitating the transition of from conventional to next generation sequencing.
- Retinal degeneration 105 gene panel diagnostic testing - processing NGS data from over 30,000 genes and significantly reducing the informatic service turn-round time.
- Exome sequencing - processing data from over 30,000 genes
Example research outputsClick to see publications
Mutations in HPSE2 cause urofacial syndrome. Am. J. Hum. Genet. 86: 963-969, 2010
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genet. 44: 338-342, 2012.
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am. J. Hum. Genet. 89: 675-681, 2011.
For more information contact:Bioinformatics Group
Manchester Centre for Genomic Medicine
St Mary's Hospital,
Oxford Road, Manchester,