{"id":"W4387781221","doi":"10.3390/biom13101546","title":"Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions","year":2023,"lang":"en","type":"article","venue":"Biomolecules","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Medical Research Council Canada; Ministero dell’Istruzione, dell’Università e della Ricerca; Fondazione Cariplo","keywords":"Sizing; Genome; Computational biology; Biology; Computer science; Genetics; Gene; Chemistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000812346,0.0001058601,0.00009246714,0.00008260882,0.00008122619,0.00001696536,0.00007781554,0.00007366527,0.000003113594],"category_scores_gemma":[0.00005643931,0.0001047148,0.00004210846,0.0001756155,0.0001002624,0.000002420025,0.0001652611,0.00003131561,0.000006488403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003787401,"about_ca_system_score_gemma":0.0000211313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009293853,"about_ca_topic_score_gemma":0.00001592128,"domain_scores_codex":[0.9992785,0.00002229431,0.0001636925,0.0002677746,0.00008285148,0.0001848309],"domain_scores_gemma":[0.9997047,0.000009159871,0.00004414868,0.0001522294,0.00003288907,0.00005686432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001238357,0.00001253918,0.0001633024,0.0000234446,0.00001876184,0.000004071262,0.00006172935,0.00002307989,0.9958751,0.00002171603,0.00002958524,0.003754265],"study_design_scores_gemma":[0.0002377675,0.0001165263,0.05449111,0.00001418548,0.000008414913,0.00001268442,0.0005597268,0.0001195592,0.940905,0.00008608576,0.003286951,0.0001620037],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970211,0.0006910329,0.001637108,0.0001047486,0.00006268449,0.0001003685,0.0000106283,0.00002086006,0.0003514602],"genre_scores_gemma":[0.9978178,0.001183644,0.0007122602,0.00005700303,0.00001430115,0.00001156631,0.00004735496,0.00001747392,0.0001386104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05497014,"threshold_uncertainty_score":0.4270144,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01768009306859421,"score_gpt":0.2411837064491274,"score_spread":0.2235036133805332,"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."}}