Published December 2, 2025
| Version v1
Dataset
Open
ClinVarify – nf-core/sarek germline WGS pipeline (4.05 million variants)
Authors/Creators
Description
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
Files
clinvarify_proof_of_execution.zip
Files
(2.0 MB)
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md5:59984b4afa9b7ea8caad0efcd0b48b9a
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