I am a Research Associate working on the analysis of whole exome sequence data within the Bioinformatics unit at the Institute for Genetic Medicine. Recent advances in technology have made it possible to sequence almost the entire protein coding region of a patient’s genome in one experiment. My role is to analyse the vast quantity of exome data and produce lists of putative disease causing mutations which are then prioritised and validated experimentally by my colleagues Dr Angela Pyle, Dr Gavin Hudson, Dr Gerald Pfeffer, Dr Marzena Kurzawa-Akanbi, Tetyana Smertenko and Jennifer Duff. My interest in mitochondrial genetics has grown through the analysis of sequence data from families with a wide range of mitochondrial disorders.
Principal Investigators: Professor Patrick Chinnery, Dr Rita Horvath and Dr Patrick Yu-Wai-Man
Other staff members involved: Dr Angela Pyle, Dr Gavin Hudson, Dr Marzena Kurzawa-Akanbi, Dr Gerald Pfeffer, Tetyana Smertenko, Jennifer Duff
Whole-Exome sequencing has made it possible to search almost the entire protein coding region of a patient’s genome for nuclear genetic defects in one experiment. This technique is being used to identify defects in families with a mitochondrial disorder that do not have a genetic diagnosis. The analysis of this vast quantity of sequence data requires a customised bioinformatic pipeline which will align the exome sequence reads to the human reference sequence, call genetic variants and filter the variants by frequency against databases of known polymorphisms. The Exome pipeline is successfully identifying rare and novel genetic defects in patients with mitochondrial disorders and a bioinformatics pipeline is also being developed in order to study the role of mitochondrial DNA in common human diseases.
1. Talim B, Pyle A, Griffin H, et al. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain. 2012 Sep 24 (Epub ahead of print).
2. Pyle A, Griffin H, Yu-Wai-Man P, et al. Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing. Arch Neurol. 2012 Jul 2:1-4.
3. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012 Jun;135(Pt 6):1695-713
4. Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 2012 May;27(6):789-93