ADVISER Class Performance.

SG-ADVISER Classification performance. The Ingenuity Clinical Assessment considers variants classified as Known Pathogenic or Likely Pathogenic by Ingenuity. The default Ingenuity allele frequency threshold of 3% plus damaging predictions by SIFT and/or Polyphen were used to simulate less confident variant classification tranches in Ingenuity.ADVISER Class Performance.

SG-ADVISER 分类性能。Ingenuity临床评估（Ingenuity Clinical Assessment）以经Ingenuity归类为已知致病性（Known Pathogenic）或可能致病性（Likely Pathogenic）的变异为分析对象。本研究采用Ingenuity默认的3%等位基因频率阈值，并结合SIFT和/或Polyphen的有害性预测结果，对Ingenuity.ADVISER分类性能分析中置信度较低的变异分类分级进行模拟。