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

Peter J Freeman, Raymond Dalgleish, Anthony J. Brookes, Liam J Gretton

Research output: Other contributionpeer-review

Abstract

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
Original languageEnglish
TypeREF 2021 Impact Development Case Study
Media of outputOnline
PublisherResearch Excellence Framework
Edition2021
Publication statusPublished - 22 Jun 2022

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