Dear All,

Greetings from a warm and sunny East Anglia.

In this update:

- DECIPHER v11.4 Released

DECIPHER v11.4 Released 

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You can also view this on the web at: https://www.deciphergenomics.org/about/news

Users can now record for different tissue types, the proportion of mitochondrial DNA carrying the variant, or for nuclear de novo mosaic variants the proportion of cells carrying the variant. This information is displayed in the genotype table.

Links to additional ClinGen expert panel specifications for ACMG/AMP variant interpretation are now displayed. These include a link to the Malignant Hyperthermia Susceptibility Variant Curation Expert Panel when annotating a variant in RYR1. When a user enters pathogenicity evidence, a link to the relevant guidelines is shown.

The genome browser gnomAD structural variant track is now displayed by default for sequence variants. This dataset includes small structural variants, such as mobile element insertions, which could be relevant when interpreting sequence variants.

The “Gene disorders” list has been changed to “GeneReviews” to ensure clarity over the source of the data. This change is reflected on gene pages and can be seen for the CDK13 gene page here: https://www.deciphergenomics.org/gene/CDK13/overview/clinical-info

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We look forward to your feedback and suggestions for improvement. Please use the "Feedback" button which is available on every page and fill in the simple form to get in touch with us. Your details will be filled in automatically if you are logged in.

Best Regards

Julia, on behalf of the DECIPHER team

Julia Foreman PhD

DECIPHER Project Manager

Email: contact@deciphergenomics.org

Web: https://www.deciphergenomics.org

Twitter: @decipher_wtsi