f350ebff8f2cc1e0772032e59e926b5e45b374cd lrnassar Tue May 5 16:18:28 2026 -0700 Adding ClinPred missense pathogenicity score track on hg19 and hg38. refs #37510 ClinPred (Alirezaie et al, AJHG 2018) joins the predictionScoresSuper supertrack as a composite of four bigWigs, one per alternate base, with a per-position color overlay (red for score >= 0.5 likely pathogenic, blue for < 0.5 likely benign). Adds clinPredToWig.py to convert the upstream score table to wig, a clinPred branch in makeWigColorByRevelCadd.py for the color overlay step, and reciprocal relatedTracks entries to REVEL, CADD, PrimateAI-3D, and AlphaMissense. Also adds Display Conventions and Credits entries in predictionScoresSuper.html for ClinPred, PrimateAI-3D, and PromoterAI. diff --git src/hg/makeDb/trackDb/relatedTracks.ra src/hg/makeDb/trackDb/relatedTracks.ra index 43a221ddb1f..2d717891115 100644 --- src/hg/makeDb/trackDb/relatedTracks.ra +++ src/hg/makeDb/trackDb/relatedTracks.ra @@ -101,30 +101,49 @@ hg38 dbVarSv lrSv Long-read structural variants across multiple cohorts hg38 lrSv dgvPlus Database of Genomic Variants (DGV) structural variation catalog hg38 dgvPlus lrSv Long-read structural variants across multiple cohorts hg38 lrSv giabSv Genome in a Bottle high-confidence SV benchmark callsets hg38 giabSv lrSv Long-read structural variants across multiple cohorts # PrimateAI-3D cross-links: hg38 primateAi alphaMissense AlphaMissense, a similar deep-learning missense pathogenicity predictor hg38 alphaMissense primateAi PrimateAI-3D, a similar deep-learning missense pathogenicity predictor using primate variation hg38 primateAi revel REVEL, an ensemble missense pathogenicity score built from multiple predictors hg38 revel primateAi PrimateAI-3D, a missense pathogenicity predictor using primate variation and 3D protein structure hg19 primateAi revel REVEL, an ensemble missense pathogenicity score built from multiple predictors hg19 revel primateAi PrimateAI-3D, a missense pathogenicity predictor using primate variation and 3D protein structure +# ClinPred cross-links: +hg38 clinPred revel REVEL, an ensemble missense pathogenicity score using a similar machine-learning approach +hg38 revel clinPred ClinPred, an ensemble missense pathogenicity predictor that incorporates gnomAD allele frequency +hg38 clinPred caddSuper CADD, a similar deleteriousness score +hg38 caddSuper clinPred ClinPred, a missense-only pathogenicity predictor +hg38 clinPred primateAi PrimateAI-3D, a missense pathogenicity predictor using primate variation +hg38 primateAi clinPred ClinPred, an ensemble missense predictor incorporating gnomAD allele frequency +hg38 clinPred alphaMissense AlphaMissense, a deep-learning missense pathogenicity predictor +hg38 alphaMissense clinPred ClinPred, an ensemble missense predictor incorporating gnomAD allele frequency + +hg19 clinPred revel REVEL, an ensemble missense pathogenicity score using a similar machine-learning approach +hg19 revel clinPred ClinPred, an ensemble missense pathogenicity predictor that incorporates gnomAD allele frequency +hg19 clinPred caddSuper CADD, a similar deleteriousness score +hg19 caddSuper clinPred ClinPred, a missense-only pathogenicity predictor +hg19 clinPred primateAi PrimateAI-3D, a missense pathogenicity predictor using primate variation +hg19 primateAi clinPred ClinPred, an ensemble missense predictor incorporating gnomAD allele frequency +hg19 clinPred alphaMissense AlphaMissense, a deep-learning missense pathogenicity predictor +hg19 alphaMissense clinPred ClinPred, an ensemble missense predictor incorporating gnomAD allele frequency + # PromoterAI cross-links: hg38 promoterAi primateAi PrimateAI-3D, a companion deep-learning model from Illumina for coding (missense) variants hg38 primateAi promoterAi PromoterAI, a companion deep-learning model from Illumina for non-coding promoter variants hg38 promoterAi alphaMissense AlphaMissense, a deep-learning predictor of missense (coding) variant pathogenicity hg38 alphaMissense promoterAi PromoterAI, a deep-learning predictor of expression-altering variants in promoter regions # NMD Escape cross-links: hg38 nmd mane MANE Select transcripts from NCBI/EBI, a curated subset of RefSeq/Ensembl transcripts used as clinical reference hg38 mane nmd NMD Escape: predicted regions where premature termination codons escape nonsense-mediated decay hg38 nmd ncbiRefSeq NCBI RefSeq transcripts, the source annotation set for the NMD Escape RefSeq subtrack hg38 ncbiRefSeq nmd NMD Escape: predicted regions where premature termination codons escape nonsense-mediated decay # MPRA cross-links: hg38 mpra wgEncodeReg4 ENCODE regulatory region annotations, many of which are tested by MPRA assays hg38 wgEncodeReg4 mpra Experimental MPRA measurements of regulatory activity for candidate elements