{"id":"W2161884297","doi":"10.1136/gut.51.3.420","title":"Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes","year":2002,"lang":"en","type":"article","venue":"Gut","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":88,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Familial adenomatous polyposis; Phenotype; Genotype; Genetics; Biology; Adenomatous polyposis coli; Disease; Gene; Mutation; Germline mutation; Genetic heterogeneity; Colorectal cancer; Medicine; Cancer; 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":[0.002809575,0.0006863932,0.0005730057,0.001560185,0.0004027929,0.0006494701,0.0005737109,0.0007734008,0.001851014],"category_scores_gemma":[0.009986832,0.0002242979,0.0007941679,0.001313273,0.0006211284,0.0002909983,0.0005490907,0.0003616252,0.0001253103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000487972,"about_ca_system_score_gemma":0.0004790004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005937589,"about_ca_topic_score_gemma":0.00538832,"domain_scores_codex":[0.9974678,0.001545877,0.0001145397,0.0005156421,0.000237451,0.0001187967],"domain_scores_gemma":[0.9896227,0.008130956,0.001142086,0.0006356169,0.0002210197,0.0002477049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006023928,0.00007148745,0.9612538,0.0001025074,0.0009679275,0.0008982545,0.0003269978,0.008236474,0.0128178,0.001043181,0.0001194409,0.01355982],"study_design_scores_gemma":[0.00005007274,0.0003931317,0.9553968,0.00002917282,0.0006881667,0.001873634,0.0002745049,0.03468062,0.002082803,0.003828958,0.0006561127,0.00004604276],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901091,0.0004096136,0.0087438,0.0000787247,0.000004970276,0.00001994828,0.0001808669,0.00003348158,0.0004196099],"genre_scores_gemma":[0.9981307,0.00004765173,0.001634487,0.000006599408,0.000003197531,0.000005955583,0.00008452398,0.000007905895,0.0000790161],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005937589,"threshold_uncertainty_score":0.0148586,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1543857784843617,"score_gpt":0.3302195028079427,"score_spread":0.175833724323581,"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."}}