DECIPHER v11.26 release

The release of version 11.26 of the DECIPHER database brings a host of new features and improvements including the integration of AlphaMissense scores, a new Genome Aggregation Database gnomAD CNV genome browser track, and links to the Open Targets Platform. Read on to find out more.

AlphaMissense integration

AlphaMissense scores from Google DeepMind are now displayed for variants on Ensembl VEP annotation tabs. AlphaMissense scores categorise single nucleotide missense variants as either likely pathogenic or likely benign. DECIPHER displays pre-computed AlphaMissense scores that have been calculated for the UniProt canonical protein, and the score is displayed against the corresponding transcript.

If you use data from AlphaMissense in your work, please cite the following paper: Cheng, J et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science (2023)

The structures and data provided in this resource are predictions with varying levels of confidence and should be interpreted carefully. The information is for theoretical modelling only. It is not intended, validated or approved for any clinical use.

Genome Aggregation Database genome browser track

A Genome Aggregation Database gnomAD CNV genome browser track is now available which displays rare coding autosomal CNVs called from exome sequencing of 464,297 individuals included in gnomAD v4.1. A gains only and a losses only filter are available. Find out more about this dataset here, and read the gnomAD CNV release blog post.

Linking with the Open Targets Platform

Gene pages now link out to the relevant associations page in the Open Targets Platform which supports the systematic identification and prioritisation of potential therapeutic targets. Through the associations pages, view a prioritised list of diseases and phenotypes associated with your gene of interest, and explore the evidence supporting the association from common and rare diseases, known drugs, affected pathways, bibliography, and more.

Find out more and get the latest DECIPHER updates here.