7e925f3a94c8253930cc591727980af204b95f04 lrnassar Tue Jul 15 15:03:43 2025 -0700 Fixing MCAP track that linked to MutScore, refs #35806 #35922 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index 4ce96db0343..8ca8cb9b787 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -65,31 +65,31 @@

July 15, 2025 New pathogenicity prediction scores for human: MutScore and M-CAP

We have two new pathogenicity prediction score tracks available in our Deleteriousness Predictions super track.

MutScore (hg19/hg38) - MutScore is a pathogenicity predictor that integrates unsupervised features of single DNA variants with information derived from such clusters. The predictive model for MutScore was trained with a random forest approach on medically-relevant mutations and subsequently tested against various genomic databases for both hereditary conditions and cancer (ClinVar, HGMD, and DoCM) to achieve high performance.
M-CAP (hg19) - M-CAP is a pathogenicity classifier for rare missense variants tuned to the high sensitivity required in the clinic. By combining previous pathogenicity scores (including SIFT, Polyphen-2 and CADD) with novel features and a powerful model, it yields an effective classifier, reducing a typical exome/genome rare (<1%) missense variant (VUS) list from 300 to 120, while never mistaking 95% of known pathogenic variants as benign.

See the track description page for more information and interpretation guidelines.

We would like to thank the authors of MutScore and M-CAP for creating and providing these data. We would also like to thank Max Haeussler and Lou Nassar for the development and release of these tracks.