Article

sv-channels: filtering genomic deletions using one-dimensional convolutional neural networks

2024-10-20

Abstract excerpt

Structural variant (SV) detection in human genomes using short-read sequencing data is hindered by false positives, arising from sequencing and mapping artifacts that mimic genuine SV signals. Despite advances, state-of-the-art SV callers like GRIDSS and Manta exhibit trade-offs between precision and recall, with GRIDSS offering the highest precision and Manta excelling in recall. To address these limitations, we...

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Literature Corpus work: feb66060-b570-5189-b18a-a151a8f8f268
DOI: 10.1101/2024.10.17.618894

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