{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003594182,0.0002543789,0.0001432958,0.0001023977,0.000262172,0.00004479552,0.00009820252,0.0001080287,0.000001967988],"category_scores_gemma":[0.002067396,0.000282824,0.0000917983,0.0001783359,0.00009894476,0.000006025507,0.00007600234,0.00005880903,5.895463e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002103446,"about_ca_system_score_gemma":0.000154353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001787242,"about_ca_topic_score_gemma":0.00001012853,"domain_scores_codex":[0.9985324,0.00007256863,0.000274009,0.0006024271,0.0001300544,0.0003885468],"domain_scores_gemma":[0.9990662,0.00008635454,0.0001848392,0.0003371121,0.0001234522,0.000202031],"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":[0.0002617348,0.00004720955,0.00139644,0.00007901692,0.00008089385,0.00002630952,0.00002913186,0.00006789729,0.9592724,0.00001879885,0.00001792088,0.03870225],"study_design_scores_gemma":[0.001359987,0.0002885324,0.0126248,0.0001260571,0.0001552848,0.00007972855,0.00005020106,0.008145633,0.9763945,0.0001519304,0.0001662051,0.0004571432],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.594484,0.006694792,0.3978779,0.00005352423,0.0001038799,0.0006031393,0.00006156695,0.00006164322,0.00005963901],"genre_scores_gemma":[0.8397454,0.000005050519,0.1595994,0.0002914194,0.00007095343,0.0001303809,0.00009685857,0.00005360625,0.000006953553],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2452614,"threshold_uncertainty_score":0.9999624,"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."}}