Mendel,MD

Open-source web software for annotating, filtering and prioritising variants from exomes and genomes in Mendelian disorders. Upload a VCF and narrow it down to a short list of candidate variants without writing code.

Create an account Sign in Source code

Annotation

VCFs are annotated with Pynnotator 3, a VEP-based pipeline, using hg38 by default. The annotated VCF can be downloaded.

Filtering

Filter by gnomAD frequency, predicted impact, SIFT and PolyPhen scores, ClinVar, zygosity and gene lists.

Family analysis

Compare variants across members of a family, with each parent's genotype shown next to the child's.

Publications

Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. PLOS Computational Biology, 2017.
Mendel,MD: a user-friendly online program for clinical exome analysis. BMC Bioinformatics, 2015.

For research use only. Mendel,MD is BSD-3 licensed open-source software.