{"id":"https://openalex.org/W7196993288","doi":"https://doi.org/10.1038/s41467-026-75404-y","title":"Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights","display_name":"Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights","publication_year":2026,"publication_date":"2026-08-06","ids":{"openalex":"https://openalex.org/W7196993288","doi":"https://doi.org/10.1038/s41467-026-75404-y","pmid":"https://pubmed.ncbi.nlm.nih.gov/42686677","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13538368"},"language":"en","primary_location":{"id":"doi:10.1038/s41467-026-75404-y","doi":"https://doi.org/10.1038/s41467-026-75404-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-026-75404-y","pdf_url":null,"source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1038/s41467-026-75404-y","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034062162","display_name":"Indhu\u2010Shree Rajan\u2010Babu","orcid":"https://orcid.org/0000-0002-5614-5212","observed_orcids":["https://orcid.org/0000-0002-5614-5212"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Indhu-Shree Rajan-Babu","raw_affiliation_strings":["Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada. indhu.babu@bcchr.ca"],"raw_orcid":"https://orcid.org/0000-0002-5614-5212","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada. indhu.babu@bcchr.ca","institution_ids":["https://openalex.org/I141945490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038133198","display_name":"Readman Chiu","orcid":"https://orcid.org/0000-0002-2215-5535","observed_orcids":["https://orcid.org/0000-0002-2215-5535"]},"institutions":[{"id":"https://openalex.org/I1289530486","display_name":"BC Cancer Agency","ror":"https://ror.org/03sfybe47","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1289530486"]},{"id":"https://openalex.org/I4210133112","display_name":"Canada's Michael Smith Genome Sciences Centre","ror":"https://ror.org/0333j0897","country_code":"CA","type":"other","lineage":["https://openalex.org/I4210133112"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Readman Chiu","raw_affiliation_strings":["Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada"],"raw_orcid":"https://orcid.org/0000-0002-2215-5535","affiliations":[{"raw_affiliation_string":"Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I1289530486","https://openalex.org/I4210133112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062252445","display_name":"Ben Weisburd","orcid":"https://orcid.org/0000-0001-9898-9109","observed_orcids":["https://orcid.org/0000-0001-9898-9109"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ben Weisburd","raw_affiliation_strings":["Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA"],"raw_orcid":"https://orcid.org/0000-0001-9898-9109","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5126047958","display_name":"Iris Caglayan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Iris Caglayan","raw_affiliation_strings":["Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I141945490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017539699","display_name":"\u0130nan\u00e7 Birol","orcid":"https://orcid.org/0000-0003-0950-7839","observed_orcids":["https://orcid.org/0000-0003-0950-7839"]},"institutions":[{"id":"https://openalex.org/I1289530486","display_name":"BC Cancer Agency","ror":"https://ror.org/03sfybe47","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1289530486"]},{"id":"https://openalex.org/I4210133112","display_name":"Canada's Michael Smith Genome Sciences Centre","ror":"https://ror.org/0333j0897","country_code":"CA","type":"other","lineage":["https://openalex.org/I4210133112"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Inanc Birol","raw_affiliation_strings":["Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada"],"raw_orcid":"https://orcid.org/0000-0003-0950-7839","affiliations":[{"raw_affiliation_string":"Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I1289530486","https://openalex.org/I4210133112"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108322540","display_name":"Jan M Friedman","orcid":"https://orcid.org/0000-0002-7482-9570","observed_orcids":["https://orcid.org/0000-0002-7482-9570"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]},{"id":"https://openalex.org/I4405258907","display_name":"BC Children's Hospital Research Institute","ror":"https://ror.org/01cvasn76","country_code":"CA","type":"education","lineage":["https://openalex.org/I4210153200","https://openalex.org/I4405258907"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jan. M. Friedman","raw_affiliation_strings":["BC Children\u2019s Hospital Research Institute, Vancouver, BC, Canada","Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BC Children\u2019s Hospital Research Institute, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I4405258907"]},{"raw_affiliation_string":"Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I141945490"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5034062162"],"corresponding_institution_ids":["https://openalex.org/I141945490"],"apc_list":{"value":6990,"currency":"USD","value_usd":6990},"apc_paid":{"value":6990,"currency":"USD","value_usd":6990},"fwci":1.9825,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.88862302,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":92,"max":95},"biblio":{"volume":"17","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.4041000008583069,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.4041000008583069,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.3521000146865845,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0877000018954277,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tandem-repeat-expansion","display_name":"tandem repeat expansion","score":0.8240000009536743},{"id":"https://openalex.org/keywords/variable-number-of-tandem-repeats","display_name":"variable number tandem repeats","score":0.9079999923706055},{"id":"https://openalex.org/keywords/microsatellite-markers","display_name":"microsatellite markers","score":0.7350000143051147},{"id":"https://openalex.org/keywords/disease-associated-loci","display_name":"disease-associated loci","score":0.6959999799728394},{"id":"https://openalex.org/keywords/local-ancestry","display_name":"local ancestry","score":0.597000002861023},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.9330000281333923},{"id":"https://openalex.org/keywords/recombination","display_name":"recombination","score":0.6949999928474426},{"id":"https://openalex.org/keywords/phylogenetic-analysis","display_name":"phylogenetic analysis","score":0.6980000138282776},{"id":"https://openalex.org/keywords/ancestral-alleles","display_name":"ancestral alleles","score":0.5659999847412109},{"id":"https://openalex.org/keywords/disease-risk","display_name":"disease risk","score":0.4860000014305115},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.6309999823570251},{"id":"https://openalex.org/keywords/population-genetic-diversity","display_name":"population genetic variation","score":0.4269999861717224},{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7954999804496765},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7296000123023987},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6463000178337097},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.6442999839782715},{"id":"https://openalex.org/C193252679","wikidata":"https://www.wikidata.org/wiki/Q242125","display_name":"Phylogenetic tree","level":3,"score":0.5734000205993652},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5685999989509583},{"id":"https://openalex.org/C189036908","wikidata":"https://www.wikidata.org/wiki/Q2587423","display_name":"Variable number tandem repeat","level":4,"score":0.5655999779701233},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5443999767303467},{"id":"https://openalex.org/C27149982","wikidata":"https://www.wikidata.org/wiki/Q3456514","display_name":"Tandem repeat","level":4,"score":0.5259000062942505},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.5103999972343445},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.4309000074863434},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3874000012874603},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.36809998750686646},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.36250001192092896},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.34880000352859497},{"id":"https://openalex.org/C90132467","wikidata":"https://www.wikidata.org/wiki/Q171184","display_name":"Phylogenetics","level":3,"score":0.33799999952316284},{"id":"https://openalex.org/C199216141","wikidata":"https://www.wikidata.org/wiki/Q4995178","display_name":"Conserved sequence","level":4,"score":0.33059999346733093},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.3240000009536743},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.3222000002861023},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.31349998712539673},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.30640000104904175},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.30250000953674316},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.28360000252723694},{"id":"https://openalex.org/C61053724","wikidata":"https://www.wikidata.org/wiki/Q1154615","display_name":"Sequence analysis","level":3,"score":0.27570000290870667},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.2529999911785126}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010802","descriptor_name":"Phylogeny","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020080","descriptor_name":"Tandem Repeat Sequences","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1038/s41467-026-75404-y","doi":"https://doi.org/10.1038/s41467-026-75404-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-026-75404-y","pdf_url":null,"source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"doi:10.1101/2025.10.11.25337795","doi":"https://doi.org/10.1101/2025.10.11.25337795","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2025.10.11.25337795","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2025/10/13/2025.10.11.25337795.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:13538368","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13538368/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13538368/pdf/41467_2026_Article_75404.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nat Commun","raw_type":"Text"},{"id":"pmid:42686677","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42686677","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature communications","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:09a980c2ad724077b397b02c484d439f","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/09a980c2ad724077b397b02c484d439f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Communications, Vol 17, Iss 1 (2026)","raw_type":"article"},{"id":"doi:10.6084/m9.figshare.29640461","doi":"https://doi.org/10.6084/m9.figshare.29640461","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.29640461","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.29640461.v1","doi":"https://doi.org/10.6084/m9.figshare.29640461.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.29640461.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1038/s41467-026-75404-y","doi":"https://doi.org/10.1038/s41467-026-75404-y","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-026-75404-y","pdf_url":null,"source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1524891929","display_name":"Using advanced genomic and computational approaches to discover and characterize novel genetic variants in neurodevelopmental disorders.","funder_award_id":"190730_1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G5443191162","display_name":"Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability","funder_award_id":"169074_1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"}],"funders":[{"id":"https://openalex.org/F4320331257","display_name":"Alliance de recherche num\u00e9rique du Canada","ror":"https://ror.org/010r6td27"},{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7196993288.pdf","grobid_xml":"https://content.openalex.org/works/W7196993288.grobid-xml"},"referenced_works_count":56,"referenced_works":["https://openalex.org/W2015699295","https://openalex.org/W2027385910","https://openalex.org/W2056258034","https://openalex.org/W2065233710","https://openalex.org/W2096027915","https://openalex.org/W2099085143","https://openalex.org/W2102619694","https://openalex.org/W2112814753","https://openalex.org/W2113501697","https://openalex.org/W2127322768","https://openalex.org/W2128371599","https://openalex.org/W2169150541","https://openalex.org/W2318657073","https://openalex.org/W2474049753","https://openalex.org/W2531138467","https://openalex.org/W2950006249","https://openalex.org/W3017245761","https://openalex.org/W3019597618","https://openalex.org/W3130788486","https://openalex.org/W3147352572","https://openalex.org/W3189624264","https://openalex.org/W3206957765","https://openalex.org/W4212820494","https://openalex.org/W4220941267","https://openalex.org/W4224076122","https://openalex.org/W4226395579","https://openalex.org/W4311448329","https://openalex.org/W4313829750","https://openalex.org/W4376133202","https://openalex.org/W4386745658","https://openalex.org/W4387893742","https://openalex.org/W4390106361","https://openalex.org/W4390507628","https://openalex.org/W4392543066","https://openalex.org/W4392644889","https://openalex.org/W4393289813","https://openalex.org/W4394694796","https://openalex.org/W4394785938","https://openalex.org/W4398157120","https://openalex.org/W4399327166","https://openalex.org/W4400091307","https://openalex.org/W4401360550","https://openalex.org/W4401607173","https://openalex.org/W4401984316","https://openalex.org/W4403039302","https://openalex.org/W4403053527","https://openalex.org/W4406135274","https://openalex.org/W4406464838","https://openalex.org/W4408873075","https://openalex.org/W4409444723","https://openalex.org/W4410419638","https://openalex.org/W4410833132","https://openalex.org/W7009952664","https://openalex.org/W7088275011","https://openalex.org/W7125937463","https://openalex.org/W7155176572"],"related_works":["https://openalex.org/W4200255416","https://openalex.org/W7160200484","https://openalex.org/W4393995286","https://openalex.org/W4386745658","https://openalex.org/W7048994372","https://openalex.org/W4318142975","https://openalex.org/W7222496565","https://openalex.org/W7172540313","https://openalex.org/W3119376159","https://openalex.org/W3084286709"],"abstract_inverted_index":{"Tandem":[0],"repeat":[1,42,67,155],"(TR)":[2],"expansions,":[3,121],"including":[4],"short":[5],"TRs":[6,13],"(motifs":[7,14],"\u22646":[8],"bp)":[9],"and":[10,24,30,35,75,83,122,164,175,189],"variable":[11,22,171],"number":[12],">6":[15],"bp),":[16],"underlie":[17],"many":[18,100],"monogenic":[19],"disorders,":[20],"with":[21,115,126,141,166],"length":[23],"sequence":[25,105],"influencing":[26],"pathogenicity,":[27],"penetrance,":[28],"severity,":[29],"onset.":[31],"Accurate":[32],"genotype-phenotype":[33],"correlation":[34],"disease":[36,87,117,135],"prevalence":[37],"estimation":[38],"require":[39],"characterization":[40],"beyond":[41],"length.":[43],"Here":[44],"we":[45,78],"present":[46],"a":[47],"population-scale":[48],"analysis":[49],"of":[50,92,197],"66":[51],"disease-associated":[52,180,198],"TR":[53,148,181],"loci":[54,114,140,165],"using":[55],"long-read":[56],"assemblies":[57],"from":[58,62,113],"2530":[59],"diverse":[60],"haplotypes":[61],"1265":[63],"unaffected":[64],"donors.":[65],"Integrating":[66],"length,":[68],"motif":[69],"composition,":[70],"local":[71],"ancestry,":[72,188],"linkage":[73,172],"disequilibrium,":[74],"phylogenetic":[76],"analyses,":[77],"reveal":[79],"extensive":[80],"locus-,":[81],"population-,":[82],"allele-specific":[84],"variation":[85],"shaping":[86],"risk.":[88],"Up":[89],"to":[90,133,151,192],"8.5%":[91],"individuals":[93],"carry":[94],"expansions":[95,131],"above":[96],"established":[97],"pathogenic":[98],"thresholds,":[99],"containing":[101],"interrupting":[102],"motifs":[103],"or":[104],"structures":[106],"that":[107],"attenuate":[108],"pathogenicity.":[109],"After":[110],"excluding":[111],"alleles":[112,163],"uncertain":[116],"association,":[118],"non-pathogenic":[119],"interrupted":[120],"carrier":[123],"states":[124],"inconsistent":[125],"inheritance":[127],"patterns,":[128],"~4%":[129],"carried":[130],"predicted":[132],"confer":[134],"risk,":[136],"largely":[137],"at":[138],"adult-onset":[139],"reduced":[142],"penetrance.":[143],"Ancestry-resolved":[144],"analyses":[145,159],"uncover":[146],"population-specific":[147],"architectures":[149],"contributing":[150],"epidemiological":[152],"disparities":[153],"in":[154],"expansion":[156],"disorders.":[157],"Phylogenetic":[158],"identify":[160],"conserved":[161],"ancestral":[162],"recent":[167],"instability.":[168],"We":[169],"describe":[170],"disequilibrium":[173],"patterns":[174],"recombination":[176],"signatures":[177],"around":[178],"specific":[179],"loci.":[182],"Our":[183],"findings":[184],"emphasize":[185],"integrating":[186],"sequence,":[187],"evolutionary":[190],"context":[191],"understand":[193],"the":[194],"complex":[195],"landscape":[196],"TRs.":[199]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-08-07T00:00:00"}