{"id":"W4376618053","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","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Montreal Neurological Institute and Hospital; University of Toronto; McGill University; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"UCLH Biomedical Research Centre; National Health and Medical Research Council; Ontario Genomics; National Institutes of Health; Wellcome Trust; Fondation de l'Hôpital Général de Montréal; University College London Hospitals NHS Foundation Trust; Deutsche Forschungsgemeinschaft; Ontario Genomics Institute; Génome Québec; Canadian Institutes of Health Research; Genome Canada; Medical Research Council","keywords":"Locus (genetics); Genetics; Allele; Sanger sequencing; Biology; Tandem repeat; DNA sequencing; Gene; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001577831,0.0002723259,0.000313093,0.0006483377,0.000275845,0.0001829574,0.000205744,0.0003421584,0.003361819],"category_scores_gemma":[0.0003875131,0.0001114058,0.000220451,0.0003466732,0.0002423197,0.00008925839,0.0001985165,0.00034732,0.0005022438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001131114,"about_ca_system_score_gemma":0.0001203245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001197163,"about_ca_topic_score_gemma":0.001949203,"domain_scores_codex":[0.9997414,0.00002978754,0.00002766318,0.0001008106,0.00006476085,0.0000356964],"domain_scores_gemma":[0.9996433,0.00005363967,0.0001676305,0.0000364314,0.00003611202,0.00006276324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006967605,0.00009303625,0.1461243,0.00008233803,0.0002053744,0.006217155,0.0003855124,0.0002064422,0.830581,0.0004130753,0.0004700125,0.01452501],"study_design_scores_gemma":[0.00003823551,0.0004397484,0.8801868,0.00002932841,0.000169663,0.04104831,0.0002401973,0.0009437843,0.07400196,0.0002982089,0.002576613,0.00002719565],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979365,0.0001217013,0.0009765708,0.00002266975,0.000006006714,0.000007497145,0.0003091278,0.00004067644,0.0005792364],"genre_scores_gemma":[0.9987,0.0000385187,0.0005719247,0.00001815774,0.000006914015,0.000003908524,0.0002006416,0.00001617636,0.0004436905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003361819,"threshold_uncertainty_score":0.01124638,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03025087235720818,"score_gpt":0.2313905430771254,"score_spread":0.2011396707199172,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}