nf-cavalier: A Nextflow Pipeline for Rare Disease Variant Prioritization and Reporting
nf-cavalier is a Nextflow pipeline that automates genomic variant annotation, filtering, and reporting for individuals with rare Mendelian diseases. The pipeline takes as input variant callsets for an individual, family, or rare disease cohort, together with a target gene panel or a phenotype of interest. Variants are then filtered using various customisable criteria, including predicted gene…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
