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

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

Abstract 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...

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Main Authors: Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K. Avvaru, Grace E. VanNoy, Nehir Edibe Kurtas, Heidi L. Rehm, Aaron R. Quinlan, Harriet Dashnow
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Genome Medicine
Online Access:https://doi.org/10.1186/s13073-025-01454-4
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