{"id":"W1991574638","doi":"10.1002/mds.21370","title":"Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification","year":2007,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Multiplex ligation-dependent probe amplification; Multiplex; Exon; Genetics; Point mutation; Biology; Gene; Mutation; Dystonia; genomic DNA; Computational biology; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.0003620869,0.0002634013,0.000311865,0.0002199865,0.0001033499,0.00001834963,0.00008303551,0.0001191045,0.00006292487],"category_scores_gemma":[0.00003806719,0.0002399026,0.0000748476,0.0003052551,0.0000863364,0.0001162853,0.00005806053,0.0001392992,0.00000581128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001321037,"about_ca_system_score_gemma":0.00001685536,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002037818,"about_ca_topic_score_gemma":0.002142827,"domain_scores_codex":[0.9979865,0.00003903961,0.0005884857,0.0005285357,0.0004508559,0.0004065713],"domain_scores_gemma":[0.9992759,0.00004328094,0.0002150071,0.0002995005,0.00004907709,0.0001172313],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009734902,0.004081589,0.5311498,0.00022645,0.000185923,0.000006092885,0.0005191881,0.00008438693,0.2043681,0.0002193026,0.0004897311,0.257696],"study_design_scores_gemma":[0.01446486,0.002982935,0.8413095,0.0001166542,0.0001840113,1.82713e-7,0.001610488,0.001040214,0.06168375,0.07417774,0.001857671,0.000571936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983265,0.002052563,0.008749139,0.001900916,0.0001301514,0.002478785,0.0000185211,0.00006408463,0.001340885],"genre_scores_gemma":[0.9925198,0.003716716,0.0004309252,0.002685681,0.00001111767,0.0001986863,0.00009739803,0.00003163239,0.0003080567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3101598,"threshold_uncertainty_score":0.9782943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0116236174239498,"score_gpt":0.2412269659481187,"score_spread":0.2296033485241689,"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."}}