Evidence map›Paper›PMID 39240375›Full record

ArticleBioinformatics (Oxford, England)2024

CSV-Filter: a deep learning-based comprehensive structural variant filtering method for both short and long reads.

Zeyu Xia, Weiming Xiang, Qingzhe Wang, Xingze Li, Yilin Li, Junyu Gao, Tao Tang, Canqun Yang, Yingbo Cui

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. 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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0cells of the map it votes in
4citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Zeyu XiaCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.ORCID 0000-0002-2816-1805
Weiming XiangCollege of Computer Science and Electronic Engineering, Hunan University, Hunan 410082, P. R. China.
Qingzhe WangCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Xingze LiCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Yilin LiCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Junyu GaoCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Tao TangCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Canqun YangCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.
Yingbo CuiCollege of Computer Science and Technology, National University of Defense Technology, Hunan 410073, P. R. China.ORCID 0000-0003-4000-4957

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationStructural variants (SVs) play an important role in genetic research and precision medicine. As existing SV detection methods usually contain a substantial number of false positive calls, approaches to filter the detection results are needed.

resultsWe developed a novel deep learning-based SV filtering tool, CSV-Filter, for both short and long reads. CSV-Filter uses a novel multi-level grayscale image encoding method based on CIGAR strings of the alignment results and employs image augmentation techniques to improve SV feature extraction. CSV-Filter also utilizes self-supervised learning networks for transfer as classification models, and employs mixed-precision operations to accelerate training. The experiments showed that the integration of CSV-Filter with popular SV detection tools could considerably reduce false positive SVs for short and long reads, while maintaining true positive SVs almost unchanged. Compared with DeepSVFilter, a SV filtering tool for short reads, CSV-Filter could recognize more false positive calls and support long reads as an additional feature. AVAILABILITY AND IMPLEMENTATION: https://github.com/xzyschumacher/CSV-Filter.

Indexed as

Deep LearningAlgorithmsGenomic Structural VariationHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNASoftware

Identifiers

PMID39240375
PMCPMC11419953

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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.