{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002807457,0.0004185694,0.0009705994,0.0003952778,0.00004512704,0.00002197359,0.0002938464,0.0002106818,0.00001311421],"category_scores_gemma":[0.0002758823,0.0003751771,0.0001403858,0.0002686665,0.0001188502,0.000004191108,0.0001639641,0.0003121088,0.000005627031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003063824,"about_ca_system_score_gemma":0.0007093368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005254882,"about_ca_topic_score_gemma":0.00002223064,"domain_scores_codex":[0.9979393,0.0001104529,0.0005110442,0.000895769,0.0001700303,0.0003733641],"domain_scores_gemma":[0.9989792,0.00005034965,0.0001933283,0.0005137696,0.00006228318,0.0002011405],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001774767,0.00283775,0.1963485,0.5968762,0.003590296,0.02150495,0.01905184,0.007114733,0.02491051,0.01330096,0.0008604703,0.1118289],"study_design_scores_gemma":[0.0050427,0.0007432925,0.1109932,0.02551683,0.003404621,0.0000502855,0.002662287,0.0003518803,0.0000075729,0.00006989011,0.8471152,0.004042239],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.05687327,0.9420795,0.00002297472,0.00001687097,0.0001784824,0.0007341638,0.00003058695,0.000009980369,0.00005413882],"genre_scores_gemma":[0.06741287,0.9313782,0.0001121419,0.00004066473,0.0008470059,0.00007484276,0.00001576904,0.00007303253,0.00004546189],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8462548,"threshold_uncertainty_score":0.99987,"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."}}