{"doi":"10.1101/2023.05.11.540430","title":"A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus","abstract":"Abstract The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 -SCA27B (GAA)•(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5’-flanking 17-bp deletion-insertion in 70.34% of alleles (3,463/4,923). This common sequence variation was present nearly exclusively on alleles with fewer than 30 GAA-pure repeats and was associated with enhanced meiotic stability of the repeat locus.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2023,"id":390737,"datarank":0.3453877639491069,"base_score":2.302585092994046,"endowment":2.302585092994046,"self_citation_contribution":0.3453877639491069,"citation_network_contribution":0.0,"self_endowment_contribution":0.3453877639491069,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9569,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1009653,"name":"Giulia Gobbo","orcid":"0000-0001-7368-0033","position":1,"is_corresponding":false},{"id":1162525,"name":"Madeline Couse","orcid":"0000-0002-3373-3214","position":2,"is_corresponding":false},{"id":246634,"name":"Egor Dolzhenko","orcid":"0000-0002-3296-0677","position":3,"is_corresponding":false},{"id":842961,"name":"Marie‐Josée Dicaire","orcid":null,"position":4,"is_corresponding":false},{"id":288179,"name":"Stephan Züchner","orcid":"0000-0001-5669-7415","position":5,"is_corresponding":false},{"id":1028722,"name":"Virginie Roth","orcid":null,"position":6,"is_corresponding":false},{"id":1028721,"name":"Marion Wandzel","orcid":null,"position":7,"is_corresponding":false},{"id":1027881,"name":"Céline Bonnet","orcid":"0000-0002-6799-0438","position":8,"is_corresponding":false},{"id":842962,"name":"Catherine Ashton","orcid":null,"position":9,"is_corresponding":false},{"id":242873,"name":"Phillipa J. Lamont","orcid":"0000-0002-4209-5015","position":10,"is_corresponding":false},{"id":242897,"name":"Nigel G. Laing","orcid":"0000-0001-5111-3732","position":11,"is_corresponding":false},{"id":841727,"name":"M. Renaud","orcid":"0000-0002-2203-4880","position":12,"is_corresponding":false},{"id":242872,"name":"Gianina Ravenscroft","orcid":"0000-0003-3634-211X","position":13,"is_corresponding":false},{"id":52692,"name":"Henry Houlden","orcid":"0000-0002-2866-7777","position":14,"is_corresponding":false},{"id":65630,"name":"Matthis Synofzik","orcid":"0000-0002-2280-7273","position":15,"is_corresponding":false},{"id":62166,"name":"Michael A. Eberle","orcid":"0000-0001-8965-1253","position":16,"is_corresponding":false},{"id":403079,"name":"Kym M. Boycott","orcid":"0000-0003-4186-8052","position":17,"is_corresponding":false},{"id":51475,"name":"Tomi Pastinen","orcid":"0000-0003-4016-5021","position":18,"is_corresponding":false},{"id":1162997,"name":"All of Us Long Reads Working Group","orcid":null,"position":19,"is_corresponding":false},{"id":841745,"name":"Bernard Brais","orcid":"0000-0003-1394-3561","position":20,"is_corresponding":false},{"id":88911,"name":"Stephan Züchner","orcid":"0000-0002-8498-5235","position":21,"is_corresponding":false},{"id":298704,"name":"Matt C. Danzi","orcid":"0000-0003-1568-5965","position":22,"is_corresponding":false},{"id":841726,"name":"David Pellerin","orcid":"0000-0002-5807-995X","position":0,"is_corresponding":true}],"reference_count":8,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:18:37.743462Z","pmid":"37425777","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}