STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1-6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and enigmatic. It remains comparatively challenging to interpret the clinical significance of TR variants, particularly relative to single nucleotide variants. We present STRchive ( http://strchive.org/ ), a dynamic resource consolidating information on TR disease loci from the research literature, up-to-date clinical resources, and large-scale genomic databases, streamlining TR variant interpretation at disease-associated loci.
Authors
- Heidi L. Rehm (ORCID: https://orcid.org/0000-0002-6025-0015)
- Egor Dolzhenko (ORCID: https://orcid.org/0000-0002-3296-0677)
- Nehir Edibe Kurtas (ORCID: https://orcid.org/0000-0001-8498-3400)
- Laurel Hiatt (ORCID: https://orcid.org/0000-0003-1321-0325)
- Ben Weisburd (ORCID: https://orcid.org/0000-0001-9898-9109)
- Aaron R. Quinlan (ORCID: https://orcid.org/0000-0003-1756-0859)
- Vincent Rubinetti (ORCID: https://orcid.org/0000-0002-4655-3773)
- Akshay Kumar Avvaru (ORCID: https://orcid.org/0000-0003-4698-9363)
- Harriet Dashnow (ORCID: https://orcid.org/0000-0001-8433-6270)
- Grace E. VanNoy (ORCID: https://orcid.org/0000-0003-1257-9702)
Institutions
- Broad Institute (US)
- University of Utah (US)
- Massachusetts General Hospital (US)
- Ambry Genetics (United States) (US)
- University of Colorado Anschutz Medical Campus (US)
- Pacific Biosciences (United States) (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1186/s13073-025-01454-4
- Citations
- 11
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 19.99
Funders
- National Health and Medical Research Council
- National Human Genome Research Institute
- National Cancer Institute