Greetings from a calm and partly sunny Cambridge.
In this update:
- Version 10.2 released
- DECIPHER guides and video tutorials
Version 10.2 released
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
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/
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.
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager