{"id":"W4309178056","doi":"10.3389/fgene.2022.985975","title":"Fragile sites, chromosomal lesions, tandem repeats, and disease","year":2022,"lang":"en","type":"review","venue":"Frontiers in Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Weston Brain Institute; Fondation Brain Canada; ALS Society of Canada","keywords":"Chromosomal fragile site; Genetics; Biology; Tandem repeat; Subtelomere; Minisatellite; CpG site; Heterochromatin; DNA methylation; Constitutive heterochromatin; Chromosome; Gene; Microsatellite; Genome; Allele","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001354687,0.0004714612,0.0006918845,0.0001682636,0.0001505401,0.00003909064,0.0004119635,0.0002687516,0.0000617919],"category_scores_gemma":[0.00009322192,0.0004951484,0.0002139304,0.0002177787,0.0001163754,0.000001772755,0.0006624623,0.0003082613,0.000003518059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005862545,"about_ca_system_score_gemma":0.0004687592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000198247,"about_ca_topic_score_gemma":0.000006739347,"domain_scores_codex":[0.9977944,0.0001817268,0.000497065,0.0008868125,0.000234825,0.0004051646],"domain_scores_gemma":[0.9989168,0.00001286648,0.0001733941,0.0005925092,0.0000150801,0.0002893198],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001792117,0.0001254112,0.003444988,0.001749075,0.0001219954,0.0000669112,0.00002804496,0.00002483368,0.00005074975,0.000004967972,0.04999892,0.9443662],"study_design_scores_gemma":[0.0002510259,0.0001094452,0.0007763019,0.0002505592,0.000162763,0.00001657195,0.00003749403,0.00002272507,0.000009398685,0.0000807527,0.9977326,0.0005503493],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001307444,0.9967985,0.0001360918,0.00001716876,0.0006733096,0.0006302188,0.0001723709,0.00001161519,0.0002533226],"genre_scores_gemma":[0.0001778281,0.99383,0.00322651,0.000157979,0.0000665703,0.0001625048,0.001562038,0.0001072558,0.0007093085],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9477337,"threshold_uncertainty_score":0.99975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02365435588364528,"score_gpt":0.2680571430604729,"score_spread":0.2444027871768276,"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."}}