Dear All,

Greetings from a windy, rainy East Anglia.

In this update:

- DECIPHER v11.3 Released

DECIPHER v11.3 Released 

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

Gene Curation Coalition (GenCC) Database gene-disease validity information is now displayed on gene pages. GenCC (https://thegencc.org) aggregates evaluations of gene-disease relationship validity from a variety of sources. Gene/disease association information for SCN2A, including GenCC data can be viewed here: https://www.deciphergenomics.org/gene/SCN2A/overview/clinical-info

In the transcript track in the genome browser, users can now choose to display either the Ensembl transcript names (e.g. SCN2A-202) or Ensembl transcript IDs (e.g. ENST00000375437.7). The preferred display can be selected using the dropdowns on the right-hand-side of the track. In addition, codon phase is displayed in the transcript popup. Codon phase is the position of an exon/intron boundary within a codon. This is particularly useful for single-exon deletions/duplications: where the start phase and end phase differs, such variants will cause a frameshift. These additions can be seen for SCN2A here: https://www.deciphergenomics.org/gene/SCN2A/browser

Depositors can now add notes alongside their pathogenicity evidence for both copy-number variants and sequence variants. These can be used to indicate the reason for applying particular criteria or strengths, for the benefit of others in the depositing centre reviewing the case.

It is now possible to indicate that a patient has died by entering the age of death when creating a patient record or editing it from the patient overview tab.

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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