{"id":"W1965463808","doi":"10.1016/j.biocel.2014.02.023","title":"Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies","year":2014,"lang":"en","type":"review","venue":"The International Journal of Biochemistry & Cell Biology","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":115,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Association Vaincre la Mucoviscidose","keywords":"Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Disease; Mutation; Ivacaftor; Medicine; Gene; Biology; Bioinformatics; Genetics; Pathology","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":[0.0009479758,0.0008029324,0.00150396,0.002175973,0.0002184327,0.0008843084,0.001067161,0.001000926,0.002045512],"category_scores_gemma":[0.001248216,0.0002127936,0.0005449373,0.001483995,0.0006511767,0.001085984,0.0008294726,0.001974823,0.001254793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008012116,"about_ca_system_score_gemma":0.001085953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001012226,"about_ca_topic_score_gemma":0.001801025,"domain_scores_codex":[0.9997005,0.00005907199,0.00004798866,0.00005180692,0.0001152459,0.00002538441],"domain_scores_gemma":[0.9994164,0.0002843454,0.00007291301,0.00001358455,0.0001640831,0.00004881535],"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":[0.00007061805,0.00006807196,0.0005425626,0.005357064,0.00007415883,0.0002382816,0.0000384615,0.0003468007,0.001244548,0.004889575,0.03091471,0.9562153],"study_design_scores_gemma":[0.00003639153,0.00009983227,0.002125628,0.005551577,0.0002096308,0.002300807,0.00008772237,0.0002457742,0.000570653,0.005571312,0.9831697,0.0000311256],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001487084,0.9973118,0.0004149988,0.0009175184,0.0003495649,0.00000499433,0.00001970919,0.00001132038,0.0008213278],"genre_scores_gemma":[0.001079121,0.9968179,0.0005643817,0.0005596501,0.0004776336,0.0000062664,0.00004809574,0.000002190368,0.000444707],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002175973,"threshold_uncertainty_score":0.006842911,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03800325496746302,"score_gpt":0.3678774283090515,"score_spread":0.3298741733415884,"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."}}