DECIPHER v11.39 released

DECIPHER v11.39 is now available, featuring N=1 assessed variant information and links to UKCGG management guidelines

What is DECIPHER?

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.

It enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient. The patient’s variant is displayed in the context of both normal variation and pathogenic variation reported at that locus thereby facilitating interpretation.

What’s new in DECIPHER v11.39?

This latest version introduces key improvements including the display of N=1 variant assessments and link to management guidelines from the UK Cancer Genetics Group:

N=1 assessed variant information

N=1 assessed variant information is now displayed on N=1 tabs. These are variants which have been assessed for their eligibility for a therapeutic intervention by the N=1 Collaborative. Full details of the assessment can be viewed by clicking on the link in the Assessment column.

UKCGG management guidelines

Links to UK Cancer Genetics Group (UKCGG) management guidelines are now available on gene pages for 35 cancer susceptibility genes. These are one-page gene-specific management guidelines for healthcare professionals which are created by UKCGG, CanGene-CanVar working groups and expert colleagues.

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Tags: bioinformatics, embl-ebi, genomics, rare disease,

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