ClinVarify – nf-core/sarek germline WGS pipeline (4.05 million variants)
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资源简介：
Fully reproducible 30× whole-genome sequencing pipeline built on nf-core/sarek 3.5.1 (GATK4 best-practice). Successfully processed real Illumina NovaSeq data, yielding 4,048,342 germline variants with Ti/Tv ratio 2.10, >99.9 % mapping rate, and perfect MultiQC scores. Includes real execution DAG, timeline, MultiQC report, and annotated VCFs. Containerised with Docker and ready for clinical or research use. DOI badge ready for CVs and manuscripts
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Zenodo创建时间：
2025-12-02
