ArticleFrontiers in genetics2021
SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- INSnet: a method for detecting insertions based on deep learning network.BMC bioinformatics · 2023Article
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6 authors.
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Abstract
As a common type of structural variation, an insertion refers to the addition of a DNA sequence into an individual genome and is usually associated with some inherited diseases. In recent years, many methods have been proposed for detecting insertions. However, the accurate calling of insertions is also a challenging task. In this study, we propose a novel insertion detection approach based on soft-clipped reads, which is called SIns. First, based on the alignments between paired reads and the reference genome, SIns extracts breakpoints from soft-clipped reads and determines insertion locations. The insert size information about paired reads is then further clustered to determine the genotype, and SIns subsequently adopts Minia to assemble the insertion sequences. Experimental results show that SIns can achieve better performance than other methods in terms of the F-score value for simulated and true datasets.
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