Bioinformatics

Bioinformaticscompressed

The Bioinformatics Group led by Sanjeev Bhaskar supports the needs of clinical research teams and diagnostics for bioinformatic tools and services within the NHS.

The group develops bespoke automated next generation sequencing analysis applications which are compliant to ISO 15189 to improve data interpretation for clinical tests. The bioinformatic pipeline supports platform specific workflows from SOLiD 5500, HiSeq 2500, NextSeq 500, and MiSeq instruments.

The work of the group was initially setup by a £1.3m joint investment strategy jointly by Manchester University NHS Foundation Trust and the University of Manchester. Our bioinformatics has been greatly enhanced by dedicated 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:
  • Cancer Pharmacogenomics analysis – 161 genomic regions informing cancer treatment options. Rapid processing of genetic markers for personalised cancer treatment meeting a five day turnaround time.
  • Analysis of four large scale disease panels using HiSeq data and a custom GATK pipeline:
    • Retinal degeneration disorders – 176 gene panel.
    • Cataract disorders – 114 gene panel.
    • Cardiac disorders – 71 gene panel.
    • Metabolic disorders – 226 gene panel.
  • Low level variant pipeline – identification of somatic variants at very low frequencies for diseases with possible mosaicism.
  • Exome sequencing – processing data for whole and focussed exome sequencing using bespoke subpanels to identify clinically significant genetic variants for disease beyond the scope of routine testing.