{"id":"W2112152874","doi":"10.1093/hmg/ddg243","title":"A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases","year":2003,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"University of Texas Health Science Center at San Antonio; Korea Science and Engineering Foundation; University of Texas Southwestern Medical Center","keywords":"Haplotype; Cystic fibrosis transmembrane conductance regulator; Biology; Genetics; Cystic fibrosis; Mutation; Population; Genotype; Gene; 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":[0.0004551029,0.000188453,0.000174151,0.001029091,0.0001985672,0.0001658287,0.0001689202,0.0001990903,0.001103424],"category_scores_gemma":[0.001467652,0.000107975,0.000202036,0.000576181,0.0001613454,0.0001134923,0.0002467591,0.0001747457,0.000182031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001054117,"about_ca_system_score_gemma":0.0001465866,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001406157,"about_ca_topic_score_gemma":0.001713375,"domain_scores_codex":[0.9997087,0.0001220271,0.00002524739,0.0000776419,0.00003872405,0.00002763638],"domain_scores_gemma":[0.9993731,0.0001777171,0.0002048057,0.0000536128,0.00007408077,0.0001166638],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007536763,0.00007779176,0.939014,0.00003905144,0.0002470346,0.0006267789,0.000159874,0.0008766952,0.04050209,0.0002063913,0.0002202124,0.01727647],"study_design_scores_gemma":[0.0001016855,0.0006035747,0.985769,0.00001818127,0.0002091924,0.003091027,0.0001359683,0.005761842,0.002821627,0.0003188711,0.001148569,0.00002046611],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984792,0.0001140391,0.001027851,0.00001502747,0.000003437462,0.00001519345,0.0001598998,0.00000500933,0.0001802975],"genre_scores_gemma":[0.9983962,0.00004745649,0.001201291,0.0000103428,0.000004544738,0.00001007684,0.000253905,0.000002721139,0.00007347753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001406157,"threshold_uncertainty_score":0.003691316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01630025678264554,"score_gpt":0.301860845712567,"score_spread":0.2855605889299215,"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."}}