Article

How good are pathogenicity predictors in detecting benign variants?

2018-09-04

Abstract excerpt

<h4>ABSTRACT</h4> Computational tools are widely used for interpreting variants detected in sequencing projects. The choice of computational tools is critical for reliable variant impact interpretation for precision medicine and should be based on systematic performance assessment. The performance of the methods varies widely in different performance assessments, for example due to the sizes of test datasets. To...

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Literature Corpus work: e5d0b7e8-bbf1-5484-b572-db1651819bcf
DOI: 10.1101/408153

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