{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005440631,0.0005679092,0.0002600937,0.001852839,0.0002394664,0.0004148823,0.0002810374,0.0006786906,0.001357052],"category_scores_gemma":[0.001424573,0.0002286246,0.0002540014,0.0006288053,0.000429668,0.000217871,0.0004283695,0.0003992806,0.0005905561],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002366062,"about_ca_system_score_gemma":0.000163384,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008071601,"about_ca_topic_score_gemma":0.001552525,"domain_scores_codex":[0.9992061,0.0002326733,0.00002397026,0.0002829552,0.0001608601,0.00009354552],"domain_scores_gemma":[0.9989576,0.0005873276,0.0001921089,0.0001266181,0.00008306231,0.00005317113],"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":[0.0002396353,0.00003412164,0.01559519,0.0001149666,0.00002975808,0.0001864455,0.0001385408,0.0002996416,0.9405777,0.0004311474,0.0001843536,0.04216849],"study_design_scores_gemma":[0.00002098226,0.0003563939,0.1149884,0.00002310473,0.00007847287,0.004603625,0.0002013505,0.00525663,0.8669389,0.0006276725,0.006866309,0.00003809763],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8791392,0.002543562,0.1094347,0.0001597923,0.0000649655,0.00006723041,0.0008240071,0.001028026,0.006738408],"genre_scores_gemma":[0.8953319,0.0009012157,0.1010542,0.000104498,0.00002336363,0.00006485733,0.0007022839,0.0001082358,0.001709343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001852839,"threshold_uncertainty_score":0.004539788,"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."}}