{"id":"W2019608297","doi":"10.1089/gtmb.2011.0215","title":"A Polymerase Chain Reaction–Based Genotyping Assay for Detecting a Novel Sandhoff Disease–Causing Mutation","year":2011,"lang":"en","type":"article","venue":"Genetic Testing and Molecular Biomarkers","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Regina; Saskatchewan Disease Control Laboratory","funders":"","keywords":"Sandhoff disease; Genotyping; Biology; Mutation; Polymerase chain reaction; Genetics; Exon; Allele; Gene; Genotype; Molecular biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.001468616,0.001046413,0.0007383898,0.001548109,0.0002643986,0.0006339964,0.0006613031,0.001292263,0.001115092],"category_scores_gemma":[0.004378352,0.0004792061,0.0005435199,0.0006526529,0.0006221146,0.0003385694,0.0003055201,0.000953852,0.001253697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006453779,"about_ca_system_score_gemma":0.0006696491,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007906315,"about_ca_topic_score_gemma":0.001914103,"domain_scores_codex":[0.9964587,0.001139039,0.0004052461,0.0008479272,0.0009174712,0.000231551],"domain_scores_gemma":[0.9967578,0.001663451,0.0005773603,0.0002865428,0.0004966091,0.0002182278],"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":[0.0002980217,0.0003133485,0.03484156,0.0001422134,0.00009223762,0.001886602,0.0002344192,0.0005319036,0.932155,0.0006335706,0.0007446802,0.02812647],"study_design_scores_gemma":[0.0002998964,0.003092826,0.09282447,0.0002391249,0.0004432621,0.01898853,0.0003642897,0.03122329,0.8370255,0.001133702,0.0142015,0.0001637198],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6618661,0.002593019,0.3206577,0.0008544333,0.0004495828,0.001810509,0.002044691,0.001744241,0.007979825],"genre_scores_gemma":[0.7238091,0.00107804,0.2672194,0.0008274648,0.00007089824,0.001262099,0.002517312,0.00007230073,0.003143412],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001548109,"threshold_uncertainty_score":0.007766843,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0239299617634657,"score_gpt":0.2429915556409723,"score_spread":0.2190615938775066,"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."}}