e82a8101c1aa495e0e6c841f83f4d6c980fddf49 max Thu Mar 12 07:28:49 2026 -0700 Add STRchive disease-associated STR loci track to strVar supertrack 75 curated disease-associated tandem repeat expansion loci from STRchive (Hiatt et al. 2025), with pathogenic thresholds, inheritance modes, and disease annotations. Colored by inheritance mode, refs #36652 Co-Authored-By: Claude Opus 4.6 diff --git src/hg/makeDb/scripts/strchive/strchive.as src/hg/makeDb/scripts/strchive/strchive.as new file mode 100644 index 00000000000..8bcc0ee67ed --- /dev/null +++ src/hg/makeDb/scripts/strchive/strchive.as @@ -0,0 +1,19 @@ +table strchive +"STRchive disease-associated short tandem repeat loci" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Locus ID (disease_gene)" + uint score; "Score (0-1000)" + char[1] strand; "Strand" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint reserved; "Item color RGB" + string gene; "Gene symbol" + string referenceMotif; "Repeat motif in reference orientation" + string pathogenicMotif; "Pathogenic repeat motif" + string pathogenicMin; "Minimum pathogenic repeat count" + string inheritance; "Mode of inheritance" + lstring disease; "Associated disease(s)" + )