Evidence map›Paper›PMID 39879385›Full record

ArticleBriefings in bioinformatics2024

SAMURAI: shallow analysis of copy number alterations using a reproducible and integrated bioinformatics pipeline.

Sara Potente, Diego Boscarino, Dino Paladin, Sergio Marchini, Luca Beltrame, Chiara Romualdi

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Sara PotenteDepartment of Biology, University of Padova, Via U.Bassi 58/ B, 35131, Italy.ORCID 0009-0007-5514-9389
Diego BoscarinoAB Analitica S.r.l., Via Svizzera, 16, 35127, Padova, Italy.
Dino PaladinAB Analitica S.r.l., Via Svizzera, 16, 35127, Padova, Italy.
Sergio MarchiniIRCCS Humanitas Research Hospital, Via Alessandro Manzoni 56, 20089 Rozzano, Milano, Italy.
Luca BeltrameIRCCS Humanitas Research Hospital, Via Alessandro Manzoni 56, 20089 Rozzano, Milano, Italy.ORCID 0000-0003-3631-6544
Chiara RomualdiDepartment of Biology, University of Padova, Via U.Bassi 58/ B, 35131, Italy.

Funding

Alessandra Bono FoundationEuropean Union's Horizon 2020 965193Italian Association for Cancer Research IG 29071
6 · The paper itself

Abstract

Shallow whole-genome sequencing (sWGS) offers a cost-effective approach to detect copy number alterations (CNAs). However, there remains a gap for a standardized workflow specifically designed for sWGS analysis. To address this need, in this work we present SAMURAI, a bioinformatics pipeline specifically designed for analyzing CNAs from sWGS data in a standardized and reproducible manner. SAMURAI is built using established community standards, ensuring portability, scalability, and reproducibility. The pipeline features a modular design with independent blocks for data preprocessing, copy number analysis, and customized reporting. Users can select workflows tailored for either solid or liquid biopsy analysis (e.g. circulating tumor DNA), with specific tools integrated for each sample type. The final report generated by SAMURAI provides detailed results to facilitate data interpretation and potential downstream analyses. To demonstrate its robustness, SAMURAI was validated using simulated and real-world data sets. The pipeline achieved high concordance with ground truth data and maintained consistent performance across various scenarios. By promoting standardization and offering a versatile workflow, SAMURAI empowers researchers in diverse environments to reliably analyze CNAs from sWGS data. This, in turn, holds promise for advancements in precision medicine.

Indexed as

Computational BiologyDNA Copy Number VariationsSoftwareWhole Genome SequencingHumansNeoplasmsReproducibility of ResultsWorkflowbioinformatics pipelinecopy number alterationsnextflow pipelineshallow whole genome sequencing

Identifiers

PMID39879385
PMCPMC11775468

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.