{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008863545,0.0008193717,0.000548134,0.001753219,0.0002130585,0.0008265695,0.0003050763,0.0004256938,0.001858348],"category_scores_gemma":[0.002487822,0.0001676502,0.0005706602,0.000867077,0.0001532545,0.0002353774,0.0006430893,0.0004565369,0.0006151813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00029363,"about_ca_system_score_gemma":0.0003601237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001110232,"about_ca_topic_score_gemma":0.0009247102,"domain_scores_codex":[0.9995643,0.0001149176,0.00002990003,0.0001289769,0.0001294108,0.0000324407],"domain_scores_gemma":[0.9976926,0.001508343,0.0002522442,0.0001797668,0.0002540542,0.0001129764],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002369668,0.0004025545,0.5376898,0.0004941613,0.001213518,0.003515011,0.0003919698,0.0840243,0.1079164,0.002755453,0.007610133,0.2516171],"study_design_scores_gemma":[0.0001698048,0.001912109,0.4680138,0.0001041719,0.001118714,0.005719631,0.0002921551,0.4128911,0.07511272,0.01419688,0.0202792,0.0001897318],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8164985,0.001493246,0.1562573,0.0006516888,0.00005575718,0.0001290295,0.01845157,0.004081764,0.002381213],"genre_scores_gemma":[0.9531538,0.0002827017,0.03970733,0.0001107239,0.00002894241,0.00005200039,0.006185178,0.00007523143,0.0004040746],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001858348,"threshold_uncertainty_score":0.006216824,"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."}}