{"id":"W2398448103","doi":"","title":"Profiling Fanconi Anemia Gene Mutations among Iranian Patients.","year":2016,"lang":"en","type":"article","venue":"PubMed","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto","funders":"","keywords":"FANCA; Fanconi anemia; FANCD2; Multiplex ligation-dependent probe amplification; Genetics; Population; Genetic testing; Prenatal diagnosis; Medicine; Mutation; Gene; Biology; DNA repair; Fetus","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":[0.0003041197,0.0003440149,0.0002266605,0.001143756,0.0004379585,0.0002608755,0.0001907823,0.000347035,0.001237762],"category_scores_gemma":[0.001184079,0.00009994928,0.0001653818,0.0008132361,0.0001763786,0.0001547749,0.0002110436,0.0002066485,0.0001806853],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002589769,"about_ca_system_score_gemma":0.0002488113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00267753,"about_ca_topic_score_gemma":0.002031227,"domain_scores_codex":[0.9998146,0.00003531004,0.00001816293,0.00004426814,0.00004410994,0.00004364259],"domain_scores_gemma":[0.9997504,0.00005620544,0.00007414931,0.00001154103,0.00006936006,0.00003837465],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000236685,0.00007562987,0.96919,0.00005261339,0.00002056809,0.001588342,0.0006652104,0.0001193216,0.00716081,0.00005835012,0.0007464704,0.02008596],"study_design_scores_gemma":[0.00002637218,0.0003200499,0.9813494,0.0000251215,0.00006265582,0.01124699,0.001058786,0.0005517071,0.002798186,0.0001312454,0.002419331,0.00001001616],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988981,0.0003341324,0.0001306825,0.00006165646,0.00000506847,0.00001742821,0.0001647709,0.000007489498,0.0003805379],"genre_scores_gemma":[0.9990379,0.0001589069,0.0003346285,0.00004282215,0.000008578671,0.00001517474,0.0002617582,0.000002113874,0.0001381624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00267753,"threshold_uncertainty_score":0.005323946,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008544822191960752,"score_gpt":0.1979950578054628,"score_spread":0.189450235613502,"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."}}