Author

M. F. Bennett

2 papers indexed here

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Review Open access Aug 2026

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...

J. Munro, Joshua Reid, M. Bahlo et al. · bioRxiv · 0 citations

Preprint Aug 2026

SVPLEX: A Nextflow Pipeline for Cohort-level Structural Variant Calling

SVPLEX is a Nextflow pipeline for cohort-level structural variant detection from short-read whole-genome sequencing data and generates a merged consensus callset across the analysis cohort, which can be used to assess cohort-specific variation, remove technical artefacts, and serve as input for rare disease variant pri...

J. Munro, M. F. Bennett, M. Bahlo · 0 citations