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ZENODO
Dataset . 2025
License: CC BY
Data sources: ZENODO
ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
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Claim

ClinVarify – nf-core/sarek germline WGS pipeline (4.05 million variants)

Research datakeyboard_double_arrow_right Dataset 02 Dec 2025 English Publisher:Zenodo
Authors: Israr, Saman;

doi: 10.5281/zenodo.17793951 , 10.5281/zenodo.17793952

ClinVarify – nf-core/sarek germline WGS pipeline (4.05 million variants)

Abstract

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

Keywords

nf-core, sarek, germline, WGS, GATK, HaplotypeCaller, Nextflow, bioinformatics, reproducible, ClinVar, VEP

  • BIP!
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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    		 Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average