Article

nf-cavalier: A Nextflow Pipeline for Rare Disease Variant Prioritization and Reporting

2026-08-10

Abstract excerpt

<h4>Summary</h4> 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 con...

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Literature Corpus work: 1407b4f2-f34e-5a44-88ae-58ed798945d9
DOI: 10.64898/2026.08.06.743410

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