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/trackDb/human/hg38/strchive.html src/hg/makeDb/trackDb/human/hg38/strchive.html new file mode 100644 index 00000000000..9bc152c8d96 --- /dev/null +++ src/hg/makeDb/trackDb/human/hg38/strchive.html @@ -0,0 +1,98 @@ +

Description

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+The STRchive track displays 75 disease-associated short tandem repeat (STR) loci +curated by the STRchive project. +STRchive is a dynamic, community-driven resource that compiles population-level and +locus-specific data for tandem repeat loci implicated in human genetic diseases.

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+Tandem repeat expansion disorders are caused by the expansion of short repetitive DNA +sequences beyond a pathogenic threshold. These expansions can cause a wide range of +neurological, neuromuscular, and developmental disorders, including Huntington disease, +fragile X syndrome, Friedreich ataxia, and many forms of spinocerebellar ataxia.

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+This track shows the genomic positions of disease-associated STR loci from the STRchive +catalog, along with the reference and pathogenic repeat motifs, minimum pathogenic repeat +count thresholds, mode of inheritance, and associated diseases. The data are based on +the GRCh38/hg38 reference assembly.

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Display Conventions

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+Items are colored by mode of inheritance:

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+Each item is labeled by its STRchive locus ID, which combines the disease abbreviation +and gene symbol (e.g., "HD_HTT" for Huntington disease at the HTT +gene). Hovering over an item shows the repeat motif, gene, pathogenic threshold, +and inheritance mode. Clicking an item links to the corresponding +STRchive locus page with detailed +clinical and population-level information.

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Methods

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+The STRchive disease locus catalog was downloaded from the +STRchive GitHub +repository (file STRchive-disease-loci.hg38.general.bed). The catalog is +manually curated by the STRchive team from published literature and contains loci where +tandem repeat expansions have been reported to cause or be associated with human disease.

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+For each locus, the catalog provides:

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+The BED file was converted to bigBed format for display in the Genome Browser. Coordinates +were used as provided (0-based half-open BED format).

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Data Access

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+The raw data can be explored interactively with the +Table Browser or the +Data Integrator. For automated +analysis, the data may be queried from our +REST API. The underlying bigBed +file can be downloaded from our +download +server.

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+The complete STRchive dataset, including additional annotations not shown in this track, +is available from strchive.org and +the STRchive GitHub +repository. The data are released under a +CC BY 4.0 +license.

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Credits

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+Thanks to Harriet Dashnow (University of Colorado), Laurel Hiatt (University of Utah), +Ben Weisburd (Broad Institute), and the STRchive team for creating and maintaining this +resource.

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References

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+Hiatt L, Weisburd B, Dolzhenko E, Rubinetti V, Rehm HL, Gymrek M, Dashnow H. + +STRchive: a dynamic resource detailing population-level and locus-specific insights +at tandem repeat disease loci. +Genome Med. 2025;17(1):30. +PMID: 40140942 +