AIMC Topic: Genomic Structural Variation
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CSV-Filter: a deep learning-based comprehensive structural variant filtering method for both short and long reads.
Bioinformatics (Oxford, England)
Sep 2, 2024
MOTIVATION: Structural 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 nee...
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.
Bioinformatics (Oxford, England)
Mar 4, 2024
MOTIVATION: Structural variants (SVs) play a causal role in numerous diseases but can be difficult to detect and accurately genotype (determine zygosity) with short-read genome sequencing data (SRS). Improving SV genotyping accuracy in SRS data, part...
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