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Cue: a deep-learning framework for structural variant discovery and genotyping - Nature Methods
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Structural variants (SVs) are a major driver of genetic diversity and disease in the human genome and their discovery is imperative to advances in precision medicine. Existing SV callers rely on hand-engineered features and heuristics to model SVs, which cannot scale to the vast diversity of SVs nor fully harness the information available in sequencing datasets.
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