ClinGen and GA4GH are excited to announce the formation of the Clinical Genomics Laboratory Community. Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? We'd love to hear from you ga4gh.org/community/clin…

.The DECIPHER Project v11.25 is here.

This update introduces new features including the display of functional data from multiplexed assays of variant effects (MAVEs) to assist variant interpretation and much more.

ebi.ac.uk/about/news/upd…

Dom McMullan 💙 Matt Hurles The DECIPHER Project We LOVE Decipher!!!! My total go-to for preliminary looking at variants. Wish I had more time to make better use of this brilliant and intuitive tool.

Refseq transcript accessions are now displayed in patient genotype tables, in the genome browser transcripts track and on the protein browser

The gene name has now been added to the protein browser to assist in easily identifying which protein is being viewed.

PhyloP scores, which measure evolutionary conservation, are now displayed on consequence prediction tabs to variant assist interpretation

The ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 were released in February 2024, and a link to these guidelines are now available from the sequence variant pathogenicity interface

A link to the recommendations for clinical interpretation of variants found in non-coding regions of the genome is displayed in the sequence variant pathogenicity interface when a variant in a non-coding region is being evaluated Jamie Ellingford Nicky Whiffin #noncoding

In January 2024 DECIPHER released a new ACMG /AMP pathogenicity interface which provides predictions for the application of criteria based on published guidelines. Predictions to apply a criterion are now bold, so are more easily visible

Functional data from Multiplexed Assays of Variant Effect (MAVEs) from the MaveDB repository are now displayed on functional tabs. Links to experimental design and score sets in MaveDB are provided, in addition to publication(s) links Atlas of Variant Effects Alliance Alan Rubin

DECIPHER version 11.25 has been released. See the new features at deciphergenomics.org #variantinterpretation

DECIPHER’s most recent release, v11.24, is now live. Explore the new features and updates added to the platform.

ebi.ac.uk/about/news/upd…

Last year, The DECIPHER Project made the move over to EMBL-EBI after many successful years at Wellcome Sanger Institute and this year DECIPHER celebrates its 20th anniversary 🎉

Find out more about DECIPHER and the move over to EMBL-EBI.

ebi.ac.uk/about/news/ann…

This #RareDiseaseDay we’re shining the spotlight on The DECIPHER Project, our database for genetic and phenotypic data which helps further our understanding of rare diseases and improving patient diagnoses.

Find out more 👇

deciphergenomics.org

DECIPHER has a new handle! To better reflect our URL and to make it easier to find us, we are now
@deciphergenonomic

Thank you Ryan Collins for generating and sharing pHaplo and pTriplo scores - now displayed as tracks in the UCSC Genome Browser

A new sequence variant ACMG /AMP pathogenicity interface is now available providing predictions for the application of criteria. Users must use their expert knowledge of the variant and patient to decide if a prediction is valid for a criteria, and if relevant, accept it.

DECIPHER version 11.24 has been released. See the new features at deciphergenomics.org

Submit your abstract by 20 February for this exciting meeting

New year, new exciting opportunity.

We are seeking a skilled and enthusiastic Support Specialist to help promote DECIPHER.

Apply for this part time (20 hours per week) role at: embl.org/jobs/position/…

Closing date: 21 January 2024