DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.

ABSTRACT:

Background

Duchenne muscular dystrophy (Duchenne) is caused by pathogenic variants in the DMD gene. Antisense oligonucleotides (AONs) are one emerging precision medicine treatment for Duchenne. DMD molecular genetic testing results guide precision-therapy molecular eligibility, requiring healthcare providers to perform analyses currently uncommon in clinical laboratory and medical practices. Clear DMD variant notation and interpretation are key components of clinical care with the availability of precision medicine.

Methods

The DMD Open-access Variant Explorer (DOVE) is a web-based aid for DMD variant interpretation which additionally reports variant-specific predicted molecular eligibility for therapy. DOVE was developed in Python and adapted to the Django Web framework, in

SUBMITTER: Bailey M 

PROVIDER: S-EPMC6382494 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature