{"id":"W4405919899","doi":"10.1186/s13073-024-01423-3","title":"Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel","year":2024,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Ottawa; Children's Hospital of Eastern Ontario","funders":"National Human Genome Research Institute","keywords":"Human genetics; Computational biology; Marfan syndrome; Genome; Consensus conference; Genetics; Medicine; Bioinformatics; Biology; Gene; 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":[0.1703847,0.001813983,0.00305094,0.01490566,0.002894153,0.005959998,0.0135583,0.008028804,0.002707523],"category_scores_gemma":[0.2300346,0.001421739,0.006167016,0.00561072,0.003741444,0.004467343,0.006116108,0.01160971,0.003757575],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004600632,"about_ca_system_score_gemma":0.03014422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01504672,"about_ca_topic_score_gemma":0.01470218,"domain_scores_codex":[0.8920947,0.04316176,0.03613199,0.004552803,0.02084962,0.003209123],"domain_scores_gemma":[0.6929048,0.1068865,0.01449598,0.01148405,0.1671869,0.007041759],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003402985,0.0002248704,0.00875413,0.01048611,0.0004452541,0.001465288,0.003679242,0.001951044,0.003011684,0.008044744,0.4458399,0.5157574],"study_design_scores_gemma":[0.000377712,0.0003064583,0.01601431,0.0871766,0.001857102,0.004409714,0.00466354,0.006101587,0.006805865,0.03202814,0.8397568,0.0005021722],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.01494948,0.128935,0.1766445,0.6130526,0.01791907,0.006382746,0.006430887,0.002539451,0.03314631],"genre_scores_gemma":[0.07808381,0.09486622,0.6961107,0.08672101,0.006534029,0.006403426,0.02099268,0.001305271,0.008982908],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.1703847,"threshold_uncertainty_score":0.9010913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06982582029529497,"score_gpt":0.3576844057466074,"score_spread":0.2878585854513124,"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."}}