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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| Format: | Article |
| Language: | English |
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BMC
2025-03-01
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| Series: | Genome Medicine |
| Online Access: | https://doi.org/10.1186/s13073-025-01454-4 |
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| _version_ | 1849392210149113856 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Laurel Hiatt |
| collection | DOAJ |
| description | 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 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. |
| format | Article |
| id | doaj-art-6fbd064dceef43f386062cf2f22fb55c |
| institution | Kabale University |
| issn | 1756-994X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Genome Medicine |
| spelling | doaj-art-6fbd064dceef43f386062cf2f22fb55c2025-08-20T03:40:50ZengBMCGenome Medicine1756-994X2025-03-0117111910.1186/s13073-025-01454-4STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociLaurel Hiatt0Ben Weisburd1Egor Dolzhenko2Vincent Rubinetti3Akshay K. Avvaru4Grace E. VanNoy5Nehir Edibe Kurtas6Heidi L. Rehm7Aaron R. Quinlan8Harriet Dashnow9Department of Human Genetics, University of UtahProgram in Medical and Population Genetics, Broad Institute of MIT and HarvardPacific Biosciences of CaliforniaDepartment of Biomedical Informatics, University of Colorado Anschutz Medical CampusDepartment of Biomedical Informatics, University of Colorado Anschutz Medical CampusProgram in Medical and Population Genetics, Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, Broad Institute of MIT and HarvardProgram in Medical and Population Genetics, Broad Institute of MIT and HarvardDepartment of Human Genetics, University of UtahDepartment of Human Genetics, University of UtahAbstract 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.https://doi.org/10.1186/s13073-025-01454-4 |
| spellingShingle | 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 STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci Genome Medicine |
| title | STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci |
| title_full | STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci |
| title_fullStr | STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci |
| title_full_unstemmed | STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci |
| title_short | STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci |
| title_sort | strchive a dynamic resource detailing population level and locus specific insights at tandem repeat disease loci |
| url | https://doi.org/10.1186/s13073-025-01454-4 |
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