Call and score variants from WGS/WES of rare disease patients.
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Updated
Jul 10, 2025 - Nextflow
Call and score variants from WGS/WES of rare disease patients.
Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
Germline structural variant calling pipeline for short read WGS datasets
Pipeline to analyze structural variants producing VCF files, then merge them and annotate if in Exon.
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