{"id":"W2034246581","doi":"10.1073/pnas.1324128111","title":"Next-generation sequencing identifies rare variants associated with Noonan syndrome","year":2014,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":187,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; Ontario Institute for Cancer Research; University of Toronto; University Health Network","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Cancer Institute; National Institutes of Health; National Science Council; Princess Margaret Cancer Foundation; Ontario Ministry of Health and Long-Term Care; American Heart Association","keywords":"Noonan syndrome; Costello syndrome; Genetics; Gene; Biology; DNA sequencing; PTPN11; Mutation; Bioinformatics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002381263,0.0004234157,0.0002409112,0.0006749926,0.0002292705,0.0003645626,0.0002558632,0.0006362151,0.0006546773],"category_scores_gemma":[0.001580993,0.000147415,0.0002086741,0.0003886902,0.000287693,0.00009251371,0.0002986404,0.0002812701,0.0001554177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001745808,"about_ca_system_score_gemma":0.0001353477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009804589,"about_ca_topic_score_gemma":0.002796991,"domain_scores_codex":[0.9996433,0.00005508447,0.00004319286,0.0001034269,0.0001085363,0.00004648971],"domain_scores_gemma":[0.9995157,0.0002196843,0.000119559,0.00003509245,0.0000371989,0.00007290614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006261443,0.00008571863,0.2863272,0.0001181085,0.0002412695,0.07115059,0.0009428479,0.0009361783,0.6018954,0.0007619111,0.0009471509,0.0359675],"study_design_scores_gemma":[0.0001314383,0.000399286,0.6871981,0.00008135509,0.0003264821,0.1927855,0.0005549822,0.006648214,0.1015348,0.0009683408,0.009308523,0.00006291101],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964756,0.0003732251,0.001968282,0.00005771085,0.00001736172,0.00001712946,0.0002240988,0.00004114211,0.0008255062],"genre_scores_gemma":[0.9966471,0.0002099752,0.002539526,0.00006645269,0.00001184698,0.00001003377,0.0002877624,0.0000148858,0.0002123928],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009804589,"threshold_uncertainty_score":0.002190053,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05069241990975148,"score_gpt":0.2705030536902755,"score_spread":0.219810633780524,"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."}}