DECIPHER v11.37 released

DECIPHER v11.37 includes single gene disorder guides produced by Unique, introduces a new Therapies tab displaying approved genetic drugs, and more

Links to single gene disorder guides produced by Unique are now displayed in DECIPHER. Unique is a charity which informs, supports and alleviates the isolation of anyone affected by a rare chromosome or gene disorder associated with learning disability/development delay. Names of relevant guides are displayed on gene pages, therapies tabs and patient records, with links to the applicable guide. Translations are provided when available.

Screenshot from DECIPHER summarising the clinical and genomic evidence linking ANKRD11 to KBG syndrome, with available single gene disorder guides produced by Unique highlighted (red box)

Approved genetic drugs/therapies are now displayed in DECIPHER on a new Therapies tab. These are drugs that have been approved by a regulatory body and curated by the N=1 Collaborative, available through the N1C Gene Registry. The Therapies tab is available from gene pages and patient records.

Screenshot from DECIPHER showing approved therapies for SMN1-associated spinal muscular atrophy, with licensed RNA- and gene-based treatments highlighted (red box)

Links to IEMbase (an expert-curated inborn errors of metabolism knowledge base) and Treatable ID (an information resource for inherited metabolic disorders which are causally related to Intellectual Disability and amenable to therapy) are now displayed on Therapies tabs instead of gene pages.

Screenshot from DECIPHER highlighting links to TreatableID and IEMbase for the disorder arylsulfatase A deficiency (red box)
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Tags: bioinformatics, decipher, embl-ebi, genomics, rare disease,

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