{"id":"W3024964726","doi":"10.1038/s41390-020-0931-5","title":"Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing","year":2020,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Neonatal Respiratory Health Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Vrije Universiteit Amsterdam; Koninklijke Nederlandse Akademie van Wetenschappen; Univerzita Karlova v Praze","keywords":"Sanger sequencing; Medicine; Amplicon; Targeted therapy; DNA sequencing; Internal medicine; Gene; Polymerase chain reaction; Genetics; Biology; Cancer","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":[0.0005245436,0.0006005602,0.0003656509,0.00128897,0.0003828474,0.0006701544,0.0005066835,0.001150793,0.001857516],"category_scores_gemma":[0.002699787,0.0003004943,0.0004362529,0.0004466069,0.0003057049,0.0003429064,0.0004675025,0.0004978969,0.0003758868],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003228,"about_ca_system_score_gemma":0.0002641142,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002723013,"about_ca_topic_score_gemma":0.00374571,"domain_scores_codex":[0.9992929,0.00007682014,0.00005822999,0.0002802644,0.0001957472,0.00009608921],"domain_scores_gemma":[0.9992637,0.0003715128,0.0001493392,0.00004566684,0.0001008253,0.00006890767],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0011472,0.00009287855,0.7979085,0.0001403107,0.0002436338,0.01843597,0.0004654347,0.002005426,0.1140215,0.0009587863,0.002867245,0.06171301],"study_design_scores_gemma":[0.0002222109,0.0006509884,0.759043,0.0003015194,0.0006533235,0.109908,0.0007859173,0.02581459,0.08239315,0.003064155,0.0170632,0.00009994915],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884234,0.001690482,0.006521749,0.0002948001,0.00005295378,0.00004591556,0.001351881,0.000170822,0.00144814],"genre_scores_gemma":[0.9942032,0.0002372304,0.004300847,0.000149671,0.00002502816,0.00001858873,0.0006092558,0.00004174634,0.0004144059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002723013,"threshold_uncertainty_score":0.006214023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06878749861699752,"score_gpt":0.3434652883667482,"score_spread":0.2746777897497507,"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."}}