{"id":"W2972663182","doi":"10.1101/cshperspect.a036632","title":"Genetic Counseling and Genome Sequencing in Pediatric Rare Disease","year":2019,"lang":"en","type":"review","venue":"Cold Spring Harbor Perspectives in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Women's Health Research Institute","funders":"","keywords":"Genetic counseling; Exome sequencing; Disease; Genetic testing; Medicine; Exome; Rare disease; Medical genetics; Population; Carrier testing; Genetics; Biology; Prenatal diagnosis; Pathology; Mutation","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":[0.001875331,0.0008686404,0.0009760755,0.002665625,0.0003121634,0.001063345,0.001175259,0.002209193,0.002588858],"category_scores_gemma":[0.002851689,0.0003082916,0.0005584938,0.002210396,0.00101422,0.001719365,0.0009039578,0.003297491,0.001950116],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001171783,"about_ca_system_score_gemma":0.001750723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002129399,"about_ca_topic_score_gemma":0.003156757,"domain_scores_codex":[0.9994298,0.0001904663,0.00007285324,0.00007796365,0.0001845091,0.00004442934],"domain_scores_gemma":[0.9984038,0.001058449,0.0001179919,0.00004477068,0.0002715058,0.0001034815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00003220768,0.00003142009,0.0002758425,0.005446685,0.00006152518,0.000479753,0.00006387591,0.0004267026,0.0004557165,0.006081472,0.07821416,0.9084306],"study_design_scores_gemma":[0.000009379423,0.00003223146,0.0007593513,0.004791487,0.0000504011,0.003005393,0.00006301305,0.0001140512,0.0002037623,0.003634225,0.9873189,0.00001788385],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0000750476,0.9947296,0.0003441014,0.002162334,0.0008703184,0.000005454299,0.0000171064,0.00001550974,0.001780415],"genre_scores_gemma":[0.0004570179,0.996977,0.0004221308,0.0009867342,0.0006106268,0.000005081815,0.00002695766,0.000003439548,0.0005111161],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002665625,"threshold_uncertainty_score":0.009917796,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02527617935214707,"score_gpt":0.2922495610199657,"score_spread":0.2669733816678186,"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."}}