DECIPHER v11.28 Released

The v11.28 DECIPHER release is out now. Find out about the new features and improvements

Updated pLI and LOEUF Scores from gnomAD v4.1

pLI and LOEUF scores across the DECIPHER website have been updated to gnomAD v4.1. These constraint scores measure the amount that a gene is constrained for loss of function variants and can help prioritise variants that are more likely to have a deleterious functional impact. On gene pages, clicking on the name of the score now links to the relevant page on the gnomAD website.

The gene page for KMT2A in the DECIPHER database, highlighting the pLI score of 1.00 and LOEUF score of 0.07.

Missense Z Scores added to gene pages

Missense Z scores, based on gnomAD v4.1, are now available on gene pages. These scores measure the amount that a gene is constrained for missense variants.

The gene page for DSP (desmoplakin) in the DECIPHER database, which displays various predictive scores indicating gene constraint. The Missense Z Score is 2.65.
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Tags: bioinformatics, embl-ebi, rare disease,