{"id":"W2233252933","doi":"10.1038/npjgenmed.2015.12","title":"Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine","year":2016,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":377,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children; Public Health Ontario","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada; GlaxoSmithKline","keywords":"Indel; Whole genome sequencing; Copy-number variation; Genetic testing; Genetics; Medical genetics; DNA sequencing; Missense mutation; Human genetics; Biology; Medicine; Mutation; Gene; Bioinformatics; Genome; Computational biology; Single-nucleotide polymorphism; Genotype","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":[0.0010095,0.000245778,0.0004048813,0.0001366103,0.00005969477,0.000005993712,0.0002365019,0.0001455898,0.00009224369],"category_scores_gemma":[0.0006474504,0.0001534863,0.00006153776,0.0001087015,0.0004242682,0.000004783637,0.000244558,0.00009825705,0.00001547468],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005136501,"about_ca_system_score_gemma":0.00007749721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005120171,"about_ca_topic_score_gemma":0.00004298536,"domain_scores_codex":[0.9980009,0.0001123865,0.0006894941,0.000668812,0.0001552459,0.0003732028],"domain_scores_gemma":[0.998835,0.0001957486,0.0001494505,0.0004964676,0.00004793513,0.0002753682],"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":[0.000277339,0.0001129118,0.1072078,0.000174354,0.0001737991,0.0002159948,0.000307152,0.000003830442,0.7621443,0.0001271368,0.003567351,0.125688],"study_design_scores_gemma":[0.008170612,0.001322104,0.9152395,0.0002041621,0.0002285261,0.00005829267,0.0009362958,0.00004879846,0.0004525836,0.001142844,0.07167597,0.0005203823],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850715,0.01092603,0.0003111555,0.001704143,0.0004035672,0.0003915302,0.00003309285,0.00001332334,0.001145686],"genre_scores_gemma":[0.9855745,0.01141962,0.0001348464,0.0008041803,0.001236484,0.00003511148,0.00009828776,0.00002706185,0.0006699233],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8080316,"threshold_uncertainty_score":0.6258991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02208723545716237,"score_gpt":0.2907988927803203,"score_spread":0.2687116573231579,"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."}}