{"id":"W2259378275","doi":"10.1038/ncomms8949","title":"Clinically relevant copy number variations detected in cerebral palsy","year":2015,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":145,"is_retracted":false,"has_abstract":true,"ca_institutions":"Holland Bloorview Kids Rehabilitation Hospital; University of Alberta; McGill University; Glenrose Rehabilitation Hospital; University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada; GlaxoSmithKline","keywords":"Cerebral palsy; Copy-number variation; Medicine; Pediatrics; Genetic testing; Cohort; Population; Prospective cohort study; Genotype; Stressor; Bioinformatics; Genetics; Internal medicine; Psychiatry; Biology; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0003688747,0.0001147699,0.0001243873,0.00004130386,0.0001208344,0.00003239061,0.0006755866,0.0003696771,0.00003100749],"category_scores_gemma":[0.000589622,0.0001149534,0.00005800514,0.0002251738,0.00008019563,0.000008132997,0.000347823,0.0004621035,0.00006060053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004096947,"about_ca_system_score_gemma":0.0002724686,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006960888,"about_ca_topic_score_gemma":0.001297056,"domain_scores_codex":[0.9989279,0.0002134553,0.0003736925,0.0002001255,0.0001060253,0.000178823],"domain_scores_gemma":[0.9981741,0.00006787611,0.0001099156,0.001288465,0.0002647288,0.0000948641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000184164,0.001004837,0.8764201,0.00001523513,0.0001824323,0.000003434444,0.001330278,0.0002419319,0.0102502,0.07823835,0.03083125,0.001297729],"study_design_scores_gemma":[0.004285761,0.0004070876,0.3267957,0.00005509607,0.0001049386,0.0001005998,0.001441926,0.001363287,0.004947299,0.008059998,0.651392,0.001046237],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9429098,0.00293091,0.001716909,0.007389766,0.0006514881,0.0006475183,0.0002501316,0.00009834964,0.04340509],"genre_scores_gemma":[0.9793837,0.0002556028,0.01861534,0.0004476974,0.0001006615,0.00006156588,0.0005718535,0.00001679731,0.0005468066],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6205608,"threshold_uncertainty_score":0.4687664,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02156021084182732,"score_gpt":0.3045083663732399,"score_spread":0.2829481555314126,"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."}}