STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

作者：Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay Kumar Avvaru, Grace E. VanNoy, Nehir Edibe Kurtas, Heidi L. Rehm, Aaron R. Quinlan, Harriet Dashnow · 发表于：Genome Medicine · 年份：2025 · DOI：10.1186/s13073-025-01454-4 · 被引用次数：18 · 研究领域：Genomics and Rare Diseases、Genetic Neurodegenerative Diseases、RNA and protein synthesis mechanisms

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.