X-cap improves pathogenicity prediction of stopgain variants

HIGHLIGHTS

• who: Ruchir Rastogi from the (UNIVERSITY) have published the article: X-CAP improves pathogenicity prediction of stopgain variants, in the Journal: (JOURNAL)
• what: The authors evaluate X-CAP at the high sensitivity required in clinical settings and show that X-CAP considerably outperforms existing methods. The authors show that X-CAP boasts superior performance when evaluated on the aforementioned datasets, as well as on patient exomes. The authors propose a decision rule that achieves 95% sensitivity (recall, true positive rate).
• how: For pathogenic variants with unknown zygosity the authors employed the following heuristic . . .
  

   

  

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