The promises and pitfalls of automated variant interpretation: a comprehensive review
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DOI: 10.1093/bib/bbaf545
Abstract: Abstract The interpretation of DNA variants enables personalized medicine through precise diagnosis and treatment selection. To address the challenges of manual interpretation, a wide range of automated tools has been created. This study evaluates these… read more here.
Keywords: interpretation comprehensive; pitfalls automated; variant interpretation; promises pitfalls ... See more keywords