Combined Annotation-Dependent Depletion (CADD)

The resulting CADD scores are expressed as a measure of deleteriousness (selection pressure bias) for single‐nucleotide variants (SNVs) and small indels. A high score represents variants that are not stabilized by selection, which are more often disease‐causing than expected by random chance;
Usually, a scaled CADD score of 20 means that a variant is amongst the top 1% of deleterious variants in the human genome. A scaled CADD score of 30 means that the variant is in the top 0.1%。
CADD值越高,表示突变位点越可能是致病性的;

posted @ 2023-12-07 22:34  橙子牛奶糖  阅读(72)  评论(0编辑  收藏  举报