{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002025677,0.0009523887,0.0005944479,0.001529881,0.0002879059,0.0006793684,0.0004564562,0.0008012609,0.001118788],"category_scores_gemma":[0.001960583,0.0004926822,0.0004112008,0.0005526525,0.0007176744,0.0005933201,0.0008497609,0.0008482275,0.001053189],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002758143,"about_ca_system_score_gemma":0.0002780254,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001691236,"about_ca_topic_score_gemma":0.0002766982,"domain_scores_codex":[0.9967944,0.001049293,0.0002121732,0.001146613,0.0005739104,0.0002234795],"domain_scores_gemma":[0.9982482,0.0009938021,0.000362957,0.0001582311,0.0001414007,0.0000953984],"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":[0.000176965,0.00008039029,0.002476915,0.0001167469,0.00003201836,0.0001534961,0.0001731309,0.000302448,0.9763046,0.000238371,0.0001410734,0.0198038],"study_design_scores_gemma":[0.00007240965,0.001244859,0.02086106,0.00005773893,0.0001527481,0.002435103,0.0001328591,0.01159013,0.9540973,0.0006853402,0.008607931,0.00006251366],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5968409,0.005095971,0.3911177,0.0005345978,0.00009612602,0.0007971488,0.001953884,0.0009844428,0.002579272],"genre_scores_gemma":[0.7058843,0.002078568,0.2857951,0.0002387023,0.00009770844,0.001007663,0.002570636,0.00006303733,0.002264283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002025677,"threshold_uncertainty_score":0.01071292,"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."}}