{"id":"W2253966318","doi":"10.1016/j.ymgme.2016.01.008","title":"Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism","year":2016,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Methylmalonic acid; Cobalamin; Gene; Vitamin B12; Medicine; Bioinformatics; Human genetics; Genetics; Biology; Internal medicine","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":[0.001454709,0.00138949,0.001099844,0.002087268,0.0005224222,0.001909022,0.0009441857,0.002108134,0.00586168],"category_scores_gemma":[0.01012532,0.0003191905,0.0009300213,0.000765618,0.0003081388,0.0009404334,0.0006889451,0.001119637,0.001606289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005501536,"about_ca_system_score_gemma":0.0006549447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002547677,"about_ca_topic_score_gemma":0.003704529,"domain_scores_codex":[0.9989399,0.0003617439,0.00009931633,0.0002131549,0.000284455,0.0001014232],"domain_scores_gemma":[0.9933414,0.003806708,0.0002743624,0.0005331659,0.001433055,0.000611374],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006366932,0.0003619877,0.6818743,0.0003233202,0.0004562706,0.01998016,0.0002368586,0.003152923,0.02837294,0.001307682,0.01772639,0.2398403],"study_design_scores_gemma":[0.0006085766,0.002300924,0.7420398,0.0009022771,0.00395566,0.07910886,0.001195257,0.05335023,0.03781885,0.01290517,0.06546199,0.000352453],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8730001,0.02774288,0.01612352,0.02354533,0.00358244,0.000203517,0.006566557,0.00111332,0.04812229],"genre_scores_gemma":[0.9744259,0.003325183,0.01175341,0.003120704,0.002004653,0.00004337882,0.002100295,0.0001101458,0.003116363],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00586168,"threshold_uncertainty_score":0.01960921,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08044655246537936,"score_gpt":0.3368203066958955,"score_spread":0.2563737542305161,"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."}}