text: GOSgene at the UCL Great Ormond Street Institute of Child Health is dedicated to providing better understanding of rare diseases. We believe that a comprehensive and flexible strategy utilising multiOmic technologies, combined with clinical information, will facilitate better understanding of the underlying molecular basis of disease.
  GOSgene was established in 2010 and funded by the NIHR Biomedical Research Centre at Great Ormond Street Hospital and University College London to facilitate gene identification in uncharacterised genetic diseases. GOSgene Discovery continues to bring research expertise at UCL GOSICH to scientists and clinicians working with childhood disorders, enabling the discovery of genetic mutations. Additionally, building on the knowledge developed as part of the HIGH-5 pilot projects, GOSgene MultiOmics is expanding our portfolio to support projects aimed to improve healthcare. These initiatives facilitate a move towards personalised medicine for patients with rare disorders.
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  Publications & Project status
  GOSgene analytical expertise
  GOSgene routinely quantify and QC all samples before normalising and sending them to the chosen sequence provider. We are able to extract high quality DNA and RNA from a range of biological specimens and prepare them for a variety of multiOmic downstream applications. We also have expertise in a range of molecular biology techniques.
  The GOSgene bioinformatics group undertakes computational analysis of multiOmics data generated for GOSgene projects using a combination of software solutions. We have established the infrastructure and robust validated pipelines for the processing and higher order analysis of different multiOmics datasets. These include whole genome sequence, RNA-seq transcriptomics, targeted and untargeted proteomics, and metabolomics. Working in partnership with our collaborators we develop and perform bespoke analysis focused on the specific scientific questions relevant to each project.
  We are exploring and developing methods to integrate different multiOmic datasets. These strategies improve our ability to identify pathogenic mutations, as well as providing better understanding of disease mechanisms at the level of molecular pathways and gene regulation. This provides mechanistic insight into disease pathogenesis, prognosis and therapeutic intervention.
  The GOSgene bioinformatics group maintains close collaboration with the UCL Department of Computer Science and eMedLab for the use of their high performance computing facilities. We also maintain access with UCL Research Computing Services for secure data storage and archiving as well as the Legion high performance computing cluster.
  The identification of a causative variant is just the first step in the process of improving patient benefit. GOSgene has the belief that through gene identification a better understanding of disease pathology will be possible which will in turn, eventually lead to improved therapeutics or even, through genetic therapies, the prevention of the disease developing in the first place. To this end we work closely with our colleagues from Experimental and Personalised Medicine.