Dear All,

Greetings from a calm and partly sunny Cambridge.

In this update:

-              Version 10.2 released

-              DECIPHER guides and video tutorials

Version 10.2 released

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You can also view this on the web at: http://decipher.sanger.ac.uk/about/news

In this release, SpliceAI scores (https://pubmed.ncbi.nlm.nih.gov/30661751) are now displayed in the patient genotype table and on the Consequence prediction (VEP) annotation tab, for variants predicted to affect splicing. In the following example, the EFTUD2 splice_region_variant is predicted to cause donor loss. The delta score is displayed and clicking on the SpliceAI prediction provides positional information: https://decipher.sanger.ac.uk/patient/301209/genotype/216348/annotation/vep-prediction. If other SpliceAI delta scores (e.g. donor gain) are more than 0.2, these are also displayed on the Consequence prediction (VEP) annotation tab.

CADD scores (https://pubmed.ncbi.nlm.nih.gov/24487276) are now displayed on the Consequence prediction (VEP) annotation tab to assist variant interpretation. The following example shows the CADD score for a pathogenic EP300 missense variant: https://decipher.sanger.ac.uk/patient/266748/genotype/191528/annotation/vep-prediction

The “Matching patients” tab has been renamed “Matching patient variants” tab, to reflect that this tab provides information about the patient’s variant and phenotype match. The tab provides a filterable interface to compare the genotype and phenotype information of patients with matching sequence variants, matching CNVs and functionally identical variants. See example here: https://decipher.sanger.ac.uk/patient/271602/genotype/191179/patient-overlap/identical.

DECIPHER guides and video tutorials

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DECIPHER guides and video tutorials are available on the help page to assist you in learning about features in DECIPHER: https://decipher.sanger.ac.uk/about/help. Keep up to date with new video tutorials by signing up to the DECIPHER YouTube channel: https://www.youtube.com/channel/UCFzu5IpFc_cjlXjzsj3YyOQ/

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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

YouTube: https://www.youtube.com/channel/UCFzu5IpFc_cjlXjzsj3YyOQ/