{"id":"W3011567635","doi":"10.1186/s13073-020-0711-1","title":"A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase","year":2020,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"National Human Genome Research Institute; National Institutes of Health; Všeobecná Fakultní Nemocnice v Praze; Canadian Institutes of Health Research; Agentura Pro Zdravotnický Výzkum České Republiky; Verily Life Sciences; Univerzita Karlova v Praze; Canada Excellence Research Chairs, Government of Canada; Canada Foundation for Innovation; American Heart Association","keywords":"Missense mutation; Homocystinuria; Cystathionine beta synthase; Genetics; Phenotype; Biology; Homocysteine; Gene; Computational biology; Bioinformatics; Amino acid; Biochemistry","routes":{"ca_aff":true,"ca_fund":true,"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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002774636,0.0002752443,0.0006407749,0.0002205058,0.0001334404,0.00001218967,0.0001930384,0.0001071479,0.001268503],"category_scores_gemma":[0.0005969367,0.0002010515,0.0001117337,0.000591822,0.000135241,0.00006394385,0.0001115719,0.0003184605,0.0007231666],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001255649,"about_ca_system_score_gemma":0.0002106938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004896993,"about_ca_topic_score_gemma":0.000006432974,"domain_scores_codex":[0.9976753,0.00004195742,0.0004395882,0.0005965175,0.0006322455,0.0006143672],"domain_scores_gemma":[0.9980466,0.0001182477,0.00008021871,0.0003900337,0.0004259144,0.0009389646],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01445293,0.0008334973,0.0007377567,0.001996426,0.001524215,0.000800002,0.04070545,0.00005882811,0.7349884,0.0010023,0.09079026,0.1121099],"study_design_scores_gemma":[0.008402107,0.02133763,0.006099817,0.0001760569,0.0005591721,0.00005246863,0.002216898,0.000869311,0.009842327,0.0001225883,0.9498343,0.0004872531],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.704905,0.00545048,0.01573487,0.2511592,0.0007074252,0.009693474,0.0003246857,0.0004115799,0.01161326],"genre_scores_gemma":[0.9751133,0.00006215311,0.005735864,0.01326139,0.002044737,0.000389843,0.0004369509,0.0001066216,0.002849175],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8590441,"threshold_uncertainty_score":0.9996445,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05784580736619374,"score_gpt":0.3174733890300847,"score_spread":0.259627581663891,"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."}}