VariantValidator: a novel, open-access and user-friendly software to improve genetic diagnosis

Your DNA sequence is unique. It is over 3 billion letters long and found in almost every cell in your body. Each individual’s DNA sequence has millions of differences (variants); most are harmless but some cause disease. For healthcare professionals worldwide it is critical that variants be reported accurately to ensure correct decision-making; something that was problematic with existing software. VariantValidator software developed at the University of Leicester (UoL) has solved this issue and is established by key partners as the gold-standard tool for variant description validation. It is used routinely by thousands of professionals globally, including; NHS training programmes, leading biomedical leading biomedical journals and databases and healthcare and research organisations