Update to rare disease database allows researchers and clinicians to input,
interpret and share all types of genomic variants in all regions of the genome
A new update was launched by researchers at the Wellcome Sanger Institute and their collaborators at Cambridge University Hospitals NHS Foundation Trust (CUH), which runs Addenbrooke’s and the Rosie maternity.
The update enables users to input, view and share genomic changes, known as variants, of any type, in any region of the genome. Previously, users could view changes of a single letter of genetic code, and changes in number of copies of a gene. Now, additional variants are included: regions of repeats – STRs, regions of the genome that have been inverted or inserted, and chromosome variants including regions inherited in an atypical way – uniparental disomy. Variants can also be grouped, reflecting the complexity of rare disease genetics.
DECIPHER is one of the largest, most comprehensive resources of its kind in the world.
The majority of rare diseases are caused by genetic changes, but many of those changes are unique to an individual, or extremely rare in a population. Everyone has millions of points of genetic differences between themselves and the reference human genome sequence, so finding the one that may be causing a particular symptom is difficult. By bringing data together, DECIPHER aims to make the links between genetics and symptoms, and helps clinicians to interpret their meaning.