Dear All,

Greetings from a warm, sunny and quiet Cambridge.

In this newsletter:

- DECIPHER major new version – coming soon

- DECIPHER downtime 17 June

- Internet Explorer 11 – please update your browser

DECIPHER major new version – coming soon

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The DECIPHER team have been working on a major new version to ensure that DECIPHER can continue to fully support variant interpretation and data sharing into the future, now including the non-coding genome. The platform has supported the interpretation and sharing of copy number variants for over sixteen years and sequence variant for over six years. DECIPHER version 10 will support the deposition, interpretation and sharing of many more types of genetic variation including aneuploidy, uniparental disomy, short tandem repeats, inversions and insertions. It will also support the grouping of variants, such as compound heterozygous variants and rare pathogenic haplotypes. Thus, DECIPHER version 10 will provide a flexible, comprehensive, case-centred interface to support the representation of the complexity of rare disease genetics.

DECIPHER version 10 will also provide further new features, such as a functionally identical variant interface, which will allow users to easily compare the phenotypes of patients with the same variant. This interface will also enable easy visualisation of the basis of a pathogenicity call, according to ACMG standards.

The phenotype browser and bulk upload will not be available for a short period after the release of version 10. This short downtime will allow the DECIPHER team to finalise these features in the new interface. The new bulk upload will support all variant classes, therefore the bulk upload templates will change considerably. If this change will affect how your centre deposits data and you would like to discuss this, please contact DECIPHER. There will also be a deposition API in version 10, please contact DECIPHER if you are interested in using this API.

The variant following feature will not be available in DECIPHER version 10. If this is a feature that you currently utilise, please contact us to discuss your requirements.

We are very excited about the release of DECIPHER version 10 and are very much looking forward to the new features being available to our users. We will send a further newsletter with links to the new features once the new version is live.

DECIPHER downtime 17 June

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The DECIPHER website will be unavailable from 9:00 - 17:00 (UK time) on 17 June while the DECIPHER team work hard to release version 10. If you have any queries about the downtime please contact us.

Internet Explorer 11 – please update your browser

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If you are using Internet Explorer 11 (IE11), once DECIPHER version 10 is released, not all features of the DECIPHER website will be displayed. We highly recommend using Google Chrome or Firefox for the best experience with the DECIPHER website. The following link provides information about how to update your browser: https://browser-update.org/en/update.html

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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: decipher@sanger.ac.uk

Web: https://decipher.sanger.ac.uk

Twitter: @decipher_wtsi