StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
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DOI: 10.1016/j.ajhg.2021.12.007
Abstract: Summary Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base pairs)… read more here.
Keywords: structural variants; svs; clinicians researchers; predict pathogenicity ... See more keywords