e105b65928dcedbb510481ae55b1d5ff7bef5a90 lrnassar Wed Apr 29 11:45:12 2026 -0700 Adding related tracks between clinGenComp, dosageSensitivity, and cnvDevDelay for hg38 and hg19. No RM. diff --git src/hg/makeDb/trackDb/relatedTracks.ra src/hg/makeDb/trackDb/relatedTracks.ra index 0c90ca47313..0ccbe73d981 100644 --- src/hg/makeDb/trackDb/relatedTracks.ra +++ src/hg/makeDb/trackDb/relatedTracks.ra @@ -118,15 +118,30 @@ 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 hg38 mpra cCREs Candidate cis-regulatory elements; many overlap MPRA-tested fragments hg38 cCREs mpra Experimentally validated regulatory activity from MPRA assays for overlapping elements + +# Dosage sensitivity / CNV cross-links: +hg38 clinGenComp dosageSensitivity Predicted gene-level haploinsufficiency (pHaplo) and triplosensitivity (pTriplo) scores from Collins et al. 2022, complementary to ClinGen's expert-curated dosage sensitivity calls +hg38 dosageSensitivity clinGenComp ClinGen expert-curated dosage sensitivity (haploinsufficiency and triplosensitivity) and gene-disease validity assertions +hg38 clinGenComp cnvDevDelay Copy Number Variation Morbidity Map of Developmental Delay: case/control CNV regions associated with developmental delay phenotypes +hg38 cnvDevDelay clinGenComp ClinGen expert-curated dosage sensitivity and gene-disease validity assertions for genes within CNV regions +hg38 dosageSensitivity cnvDevDelay Copy Number Variation Morbidity Map of Developmental Delay: case/control CNV regions providing phenotypic context for dosage-sensitive genes +hg38 cnvDevDelay dosageSensitivity Predicted gene-level haploinsufficiency (pHaplo) and triplosensitivity (pTriplo) scores from Collins et al. 2022 for genes within these CNVs + +hg19 clinGenComp dosageSensitivity Predicted gene-level haploinsufficiency (pHaplo) and triplosensitivity (pTriplo) scores from Collins et al. 2022, complementary to ClinGen's expert-curated dosage sensitivity calls +hg19 dosageSensitivity clinGenComp ClinGen expert-curated dosage sensitivity (haploinsufficiency and triplosensitivity) and gene-disease validity assertions +hg19 clinGenComp cnvDevDelay Copy Number Variation Morbidity Map of Developmental Delay: case/control CNV regions associated with developmental delay phenotypes +hg19 cnvDevDelay clinGenComp ClinGen expert-curated dosage sensitivity and gene-disease validity assertions for genes within CNV regions +hg19 dosageSensitivity cnvDevDelay Copy Number Variation Morbidity Map of Developmental Delay: case/control CNV regions providing phenotypic context for dosage-sensitive genes +hg19 cnvDevDelay dosageSensitivity Predicted gene-level haploinsufficiency (pHaplo) and triplosensitivity (pTriplo) scores from Collins et al. 2022 for genes within these CNVs