Article

StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

2020-05-16

Abstract excerpt

<h4>Background</h4> 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) of uncertain significance are the genetic cause of a portion of these unresolved cases. As sequencing methods using long or linked reads be...

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Literature Corpus work: 35bd39d3-d8d5-5d7b-8a6e-045c0f2f3256
DOI: 10.1101/2020.05.15.097048

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