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Deep2106/WES_germaline_variant_calling

Containerized Nextflow pipeline for WES, easily extendable to WGS (via VQSR). It integrates FastQC/MultiQC for QC, fastp for preprocessing, BWA-MEM2 for alignment, GATK 4.2.6 for variant calling, and ANNOVAR for annotation, with optional DeepVariant and SpliceAI support.

语言:Perl · GitHub 星标:1 · Fork:1

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