{"id":"W2165458408","doi":"10.1534/g3.115.019851","title":"Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia","year":2015,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Clinical Evaluative Sciences; SickKids Foundation; St. Michael's Hospital; University of Toronto; Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; Université de Montréal; University of Toronto; National Heart, Lung, and Blood Institute; McGill University; University of North Carolina at Chapel Hill; National Institutes of Health; Rare Diseases Clinical Research Network; University of Ottawa","keywords":"Primary ciliary dyskinesia; Biology; Exome sequencing; Sanger sequencing; Copy-number variation; Molecular genetics; Genetics; Preimplantation genetic diagnosis; Genetic analysis; Genetic heterogeneity; Copy number analysis; Genetic testing; Genetic counseling; Bioinformatics; Bronchiectasis; Mutation; Gene; Phenotype; Medicine; Internal medicine; Lung; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004790359,0.0002926899,0.0006868654,0.0004901326,0.00005748402,0.00005252543,0.0001884915,0.0001389742,0.00009980956],"category_scores_gemma":[0.00004389186,0.0002753091,0.0001139535,0.001509634,0.0002026986,0.00009251067,0.0002217945,0.0002220768,0.0000868114],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004920754,"about_ca_system_score_gemma":0.0005792833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007475241,"about_ca_topic_score_gemma":0.0001217329,"domain_scores_codex":[0.9974773,0.0001131342,0.0005130142,0.0005790556,0.0006979581,0.0006195704],"domain_scores_gemma":[0.9983883,0.00009771985,0.0001044264,0.000594395,0.0002828219,0.0005323665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002036966,0.00006708669,0.7985779,0.0001814744,0.0003260926,0.0001848635,0.0005761205,0.002416393,0.06045062,0.000005600818,0.0003440688,0.1366661],"study_design_scores_gemma":[0.005522557,0.0007176845,0.8050573,0.0001159595,0.001213632,0.0003419755,0.001657244,0.01418542,0.01181713,0.000660002,0.1576272,0.001083894],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7131212,0.2838644,0.0008592762,0.0003113937,0.00009276537,0.0004502333,0.00004493232,0.000055483,0.001200339],"genre_scores_gemma":[0.9266764,0.02780316,0.04327893,0.0003629185,0.0002322964,0.0000485469,0.0003238701,0.00006323667,0.001210655],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2560612,"threshold_uncertainty_score":0.9999699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02759185009254612,"score_gpt":0.3031667389759982,"score_spread":0.2755748888834521,"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."}}