ArticleFrontiers in genetics2022
Is an SV caller compatible with sequencing data? An online recommendation tool to automatically recommend the optimal caller based on data features.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data.Briefings in bioinformatics · 2026Article
- MRDadaptis: self-adaptive parameter configuration enhances minimal residual disease detection in heterogeneous ctDNA samples.Briefings in bioinformatics · 2025Article
- TMBstable: a variant caller controls performance variation across heterogeneous sequencing samples.Briefings in bioinformatics · 2024Article
- What makes TMB an ambivalent biomarker for immunotherapy? A subtle mismatch between the sample-based design of variant callers and real clinical cohort.Frontiers in immunology · 2023Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A lot of bioinformatics tools were released to detect structural variants from the sequencing data during the past decade. For a data analyst, a natural question is about the selection of a tool fits for the data. Thus, this study presents an automatic tool recommendation method to facilitate data analysis. The optimal variant calling tool was recommended from a set of state-of-the-art bioinformatics tools by given a sequencing data. This recommendation method was implemented under a meta-learning framework, identifying the relationships between data features and the performance of tools. First, the meta-features were extracted to characterize the sequencing data and meta-targets were identified to pinpoint the optimal caller for the sequencing data. Second, a meta-model was constructed to bridge the meta-features and meta-targets. Finally, the recommendation was made according to the evaluation from the meta-model. A series of experiments were conducted to validate this recommendation method on both the simulated and real sequencing data. The results revealed that different SV callers often fit different sequencing data. The recommendation accuracy averaged more than 80% across all experimental configurations, outperforming the random- and fixed-pick strategy. To further facilitate the research community, we incorporated the recommendation method into an online cloud services for genomic data analysis, which is available at https://c.solargenomics.com/
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