Benefits of using DECIPHER in clincal practice

Now that you have learnt how to use DECIPHER, watch Dr Julia Foreman interviewing Prof Helen Firth from Cambridge University Hospitals about the breakthrough impact of DECIPHER in the clinical setting.

DECIPHER was initiated over 20 years ago to share rare disease patient data and provide variant interpretation tools. Initially, it focused on chromosomal deletions and duplications but has since evolved to handle a wide range of genetic variants, including single nucleotide variants, structural variants, and more. Over the years, DECIPHER has contributed to over 3,000 publications and is widely used by clinical teams for variant evaluation and interpretation. The platform hosts nearly 50,000 patient records, shared openly with patient consent, facilitating diagnosis and research while ensuring patient privacy.

The Human Genome Project (HGP), mentioned in the video, was a global initiative launched in 1990 with the objective of generating the first sequence of the human genome. In 2003, they announced the completion of 90% of the human genome sequence. The advancements in sequencing technologies enabled the release of a gapless ‘complete genome’ in 2022.

Have you used DECIPHER in your practice? Share your experiences in the comments.