Abstract
The rapid expansion of single-cell sequencing-based research has motivated a proliferation of variant callers on the sequencing data. Due to the differences on calling strategies, these callers often exhibit varying performance when applied across heterogeneous sequencing samples. Selecting a suitable caller that fits for the data on-hand becomes an overwhelming task for researchers in this field. Thus, in this study, an automatic recommendation method for single-cell DNA (scDNA) variant callers is proposed. This recommender is designed on meta-learning framework. It explores the underlying associations between scDNA data features and the optimal variant caller on specific performance metric. The recommender is trained by benchmark sequencing datasets, and base on this, recommend appropriate caller for new sequencing data. A series of experiments on different datasets and various configurations have been conducted to validate the proposed method. The results demonstrate that the average performance of this recommendation method outperforms fixed and random strategies.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Ni, X., et al.: Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients. Proc. Natl. Acad. Sci. 110(52), 21083–21088 (2013)
Xu, X., et al.: Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell 148(5), 886–895 (2012)8
Navin, N.E.: Cancer genomics: one cell at a time. Genome Biol. 15, 1–13 (2014)
Zafar, H., Wang, Y., Nakhleh, L., Navin, N., Chen, K.: Monovar: singlenucleotide variant detection in single cells. Nat. Methods 13(6), 505–507 (2016)
Lähnemann, D., Köster, J., Fischer, U., Borkhardt, A., McHardy, A.C., Schönhuth, A.: Accurate and scalable variant calling from single cell DNA sequencing data with prosolo. Nat. Commun. 12(1), 6744 (2021)
Singer, J., Kuipers, J., Jahn, K., Beerenwinkel, N.: Single-cell mutation identification via phylogenetic inference. Nat. Commun. 9(1), 5144 (2018)
Edrisi, M., et al.: Phylovar: toward scalable phylogenyaware inference of single-nucleotide variations from single-cell DNA sequencing data. Bioinformatics 38(Supplement 1), i195–i202 (2022)
Bahonar, S., Montazeri, H.: Somatic single-nucleotide variant calling from single-cell DNA sequencing data using SCAN-SNV. In: Ng, C., Piscuoglio, S. (eds.) Variant Calling. Methods in Molecular Biology, vol. 2493, pp. 267–277. Springer, New York (2022). https://doi.org/10.1007/978-1-0716-2293-3_17
Dong, X., et al.: Accurate identification of single-nucleotide variants in whole-genome amplified single cells. Nat. Methods 14(5), 491–493 (2017)
Hård, J., et al.: Conbase: a software for discovery of clonal somatic mutations in single cells through read phasing. bioRxiv p. 259994 (2018) [8]
Valecha, M., Posada, D.: Somatic variant calling from single-cell DNA sequencing data. Comput. Struct. Biotechnol. J. 20, 2978–2985 (2022)
Khan, I., Zhang, X., Rehman, M., Ali, R.: A literature survey and empirical study of meta-learning for classifier selection. IEEE Access 8, 10262–10281 (2020)
Krishnaveni, N., Radha, V.: Feature selection algorithms for data mining classification: a survey. Indian J. Sci. Technol. 12(6), 1–11 (2019)
Zook, J.M., et al.: Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci. Data 3(1), 1–26 (2016)
Posada, D.: CellCoal: coalescent simulation of single-cell sequencing samples. Mol. Biol. Evol. 37(5), 1535–1542 (2020)
Yu, Z., Du, F., Sun, X., Li, A.: SCSsim: an integrated tool for simulating single-cell genome sequencing data. Bioinformatics 36(4), 1281–1282 (2020)
Feng, X., Chen, L.: Scsilicon: a tool for synthetic single-cell DNA sequencing data generation. BMC Genom. 23(Suppl 4), 359 (2022)
El Nagar, Z.M., Barakat, D.H., Rabie, M.A.E.M., Thabeet, D.M., Mohamed, M.Y.: Relation of non-suicidal self-harm to emotion regulation and alexithymia in sexually abused children and adolescents. J. Child Sex. Abus. 31(4), 431–446 (2022)
Song, Q., Wang, G., Wang, C.: Automatic recommendation of classification algorithms based on data set characteristics. Pattern Recogn. 45(7), 2672–2689 (2012)
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2024 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.
About this paper
Cite this paper
Wang, J., Zhao, X., Wang, J. (2024). An Automatic Recommendation Method for Single-Cell DNA Variant Callers Based on Meta-Learning Framework. In: Peng, W., Cai, Z., Skums, P. (eds) Bioinformatics Research and Applications. ISBRA 2024. Lecture Notes in Computer Science(), vol 14955. Springer, Singapore. https://doi.org/10.1007/978-981-97-5131-0_23
Download citation
DOI: https://doi.org/10.1007/978-981-97-5131-0_23
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-97-5130-3
Online ISBN: 978-981-97-5131-0
eBook Packages: Computer ScienceComputer Science (R0)