Mendel,MD

Mendel,MD identifies disease-causing variants from human exome and genome sequencing data to support diagnosis of Mendelian disorders.

Key Features:

• Comprehensive Filtering Options: Integrates multiple variant- and gene-level filters to refine candidate genes and variants from exome and genome sequencing data.
• Regular Database Updates: Annotates exome and genome data using regularly updated databases to maintain current gene–disease associations.
• 1-Click Methodology: Implements a "1-click" method that lists variants in genes present in OMIM for rapid candidate review.

Scientific Applications:

• Diagnosis of Mendelian Disorders: Prioritizes and identifies candidate disease-causing variants for patients with suspected Mendelian disorders using exome or genome data.
• Clinical Variant Interpretation: Facilitates identification and review of mutations reported in clinical cases and the literature to support diagnostic interpretation.

Methodology:

Applies integrated variant- and gene-level filtering, annotation with regularly updated databases, and a "1-click" OMIM-based variant listing.