nf-core/pacsomatic: a scalable somatic analytic pipeline using PacBio HiFi data

MOTIVATION: Pacific Biosciences (PacBio) HiFi long-read sequencing enables robust characterization of complex genomic regions, repetitive elements, and structural variants (SVs) that are often inaccessible to short-read technologies. To fully leverage HiFi reads to advance cancer genomics and epigenetics, researchers require an end-to-end, scalable and optimized bioinformatics workflow. The nf-core framework meets this need by providing rigorously tested, community-curated pipelines that ensure reproducibility, transparency, and broad compatibility across computational environments. RESULTS: We present nf-core/pacsomatic, an automated Nextflow DSL2 pipeline designed for comprehensive paired tumor-normal somatic analysis using PacBio HiFi data. The workflow includes steps for read alignments against reference genome, somatic SNV/indel, SV, and CNV calling, CpG methylation profiling and differential methylation region (DMR) detection. Additional downstream modules support functional annotation, mutational signature analysis, tumor purity and ploidy estimation, and homologous recombination deficiency (HRD) assessment. Utilizing nf-core's modular design and containerized execution, nf-core/pacsomatic provides a stable framework for the reproducible discovery of biological insights. AVAILABILITY: nf-core/pacsomatic is available under the MIT License at nf-core (https://nf-co.re/pacsomatic) and github (https://github.com/nf-core/pacsomatic). SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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Publication Details

Journal
Bioinformatics
Published
2026-08-27
DOI
https://doi.org/10.1093/bioinformatics/btag647
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

nf-core/pacsomatic: a scalable somatic analytic pipeline using PacBio HiFi data

Beifang Niu, Gang Wu, Haidong Yi, Ti-Cheng Chang et al.
Bioinformatics
Cancer Genomics and Diagnostics
article

nf-core/pacsomatic: a scalable somatic analytic pipeline using PacBio HiFi data

Beifang Niu, Gang Wu, Haidong Yi, Ti-Cheng Chang, Wenchao Zhang
article en

Abstract

MOTIVATION: Pacific Biosciences (PacBio) HiFi long-read sequencing enables robust characterization of complex genomic regions, repetitive elements, and structural variants (SVs) that are often inaccessible to short-read technologies. To fully leverage HiFi reads to advance cancer genomics and epigenetics, researchers require an end-to-end, scalable and optimized bioinformatics workflow. The nf-core framework meets this need by providing rigorously tested, community-curated pipelines that ensure reproducibility, transparency, and broad compatibility across computational environments. RESULTS: We present nf-core/pacsomatic, an automated Nextflow DSL2 pipeline designed for comprehensive paired tumor-normal somatic analysis using PacBio HiFi data. The workflow includes steps for read alignments against reference genome, somatic SNV/indel, SV, and CNV calling, CpG methylation profiling and differential methylation region (DMR) detection. Additional downstream modules support functional annotation, mutational signature analysis, tumor purity and ploidy estimation, and homologous recombination deficiency (HRD) assessment. Utilizing nf-core's modular design and containerized execution, nf-core/pacsomatic provides a stable framework for the reproducible discovery of biological insights. AVAILABILITY: nf-core/pacsomatic is available under the MIT License at nf-core (https://nf-co.re/pacsomatic) and github (https://github.com/nf-core/pacsomatic). SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Bioinformatics
St. Jude Children's Research Hospital (US)
St. Jude Children's Research Hospital, Strong
Openalex Percentile: Top 14%
Cancer Genomics and Diagnostics
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nf-core/pacsomatic: a scalable somatic analytic pipeline using PacBio HiFi data — Beifang Niu, Gang Wu, et al. · Bioinformatics (2026) | TGRS Research Map | TGRS