bac95a147f49cd331052e597006e04b3deee40fc max Wed Apr 22 10:43:20 2026 -0700 lrSv/srSv: human-readable SV type filter labels, script cleanups Add human-readable labels to the supertrack-level svType filter on both the lrSv and srSv supertracks using the "CODE|CODE (Long name)" filterValues syntax: DEL -> "DEL (Deletion)", INS -> "INS (Insertion)", etc. Labels keep the short code up front so users can match what hgTracks shows next to each feature. Also sweep in the in-progress converter/as-file cleanups under scripts/lrSv/ and scripts/srSv/ (introduction of lrSvCommon.py helpers, consistent insLen / svLen / AC column naming, tightened field-description text) that had been piling up as an unstaged working tree. refs #36258 diff --git src/hg/makeDb/scripts/lrSv/lrSvAou1k.as src/hg/makeDb/scripts/lrSv/lrSvAou1k.as index beb1cf957ee..99edaee20b0 100644 --- src/hg/makeDb/scripts/lrSv/lrSvAou1k.as +++ src/hg/makeDb/scripts/lrSv/lrSvAou1k.as @@ -1,33 +1,35 @@ table lrSvAou1k "All of Us long-read structural variants" ( string chrom; "Chromosome" uint chromStart; "Start position" uint chromEnd; "End position" string name; "Variant Name" uint score; "Score" char[1] strand; "Strand" uint thickStart; "Thick start (same as chromStart)" uint thickEnd; "Thick end (same as chromEnd)" uint reserved; "Item color" string svType; "SV Type|DEL or INS" - int svLen; "SV Length|Length of the structural variant in base pairs" + int svLen; "SV Length|Length of the structural variant on the reference in base pairs" + int insLen; "Insertion Length|Length of inserted sequence, 0 for DEL/INV/CPX" + int AC; "Allele Count|Approximate allele count (5008 * max population AF; AoU site-level data does not publish AC directly)" float afAfr; "AF African|Allele frequency in African/African American samples" float afAmr; "AF Admixed American|Allele frequency in Admixed American samples" float afEas; "AF East Asian|Allele frequency in East Asian samples" float afEur; "AF European|Allele frequency in European samples" float afSas; "AF South Asian|Allele frequency in South Asian samples" string fst; "Fst (AFR vs Non-AFR)|Fixation index between African and non-African populations" lstring omimGenes; "OMIM Genes|OMIM genes intersected with pLI and LOEUF scores" lstring diseaseGenes; "Disease Genes|Disease genes intersected with pLI and LOEUF scores" lstring cancerGenes; "Cancer Genes|Cancer genes intersected with pLI and LOEUF scores" lstring acmgGenes; "ACMG Genes|ACMG genes intersected with pLI and LOEUF scores" string regElement; "Regulatory Element|Type of regulatory element intersected (e.g. enhancer, promoter)" string segDup; "SegDup|Segmental duplication association (INS: within 1kb, DEL: intersect)" string tandemRepeat; "Tandem Repeat|Tandem repeat intersected" string otherLrDatasets; "Other LR Datasets|Detected in other long-read datasets (HPRC, HGSVC, 1KG-ONT)" string detectedInSr; "Detected in SR|Detected in matched AoU short-read data" lstring eqtls; "eQTLs|eQTL associations: gene(qvalue)" lstring gwas; "GWAS Associations|GWAS associations: trait(gene, rsID, pvalue, LD_r2)" lstring traitAssoc; "SV-Trait Associations|SV-trait associations in AoU Phase I (Carrier%, Non-carrier%, OR, 95% CI, pvalue)" )