{"id":"W2894801290","doi":"10.1038/s41576-018-0057-3","title":"The importance of genetic counselling in genome-wide sequencing","year":2018,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia Hospital; B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"","keywords":"Biology; Genetic counseling; Test (biology); Genome; Whole genome sequencing; Genetics; Genetic testing; DNA sequencing; Computational biology; Personal genomics; Evolutionary biology; Gene; Ecology","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":[0.006467214,0.001066785,0.002221064,0.002386823,0.0003773475,0.001980017,0.002288419,0.003855461,0.002784616],"category_scores_gemma":[0.01328947,0.0003999416,0.0008206497,0.001511629,0.002383933,0.003039475,0.001635339,0.006283295,0.001336862],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001317069,"about_ca_system_score_gemma":0.002095237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002138326,"about_ca_topic_score_gemma":0.002602549,"domain_scores_codex":[0.9978053,0.000871318,0.0002029482,0.0003619487,0.0006375425,0.0001209037],"domain_scores_gemma":[0.9836482,0.01389675,0.0003204287,0.0003654046,0.001367635,0.0004015119],"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":[0.00008317438,0.00004184166,0.0007983831,0.00606204,0.0001710597,0.0009050361,0.0001262802,0.0008339865,0.001025769,0.02023402,0.07907412,0.8906443],"study_design_scores_gemma":[0.00004027677,0.00005711008,0.001509669,0.007114681,0.000226015,0.005660039,0.0001615378,0.0005233569,0.0005588226,0.02730414,0.9567754,0.00006899061],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001796289,0.9819947,0.003649601,0.01006215,0.001962561,0.000009247379,0.00006635199,0.00004896414,0.002026867],"genre_scores_gemma":[0.003140189,0.9799117,0.0038165,0.007744099,0.004382962,0.00002099866,0.0001315422,0.00002466032,0.0008272938],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006467214,"threshold_uncertainty_score":0.03420228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02550817828075158,"score_gpt":0.316164759834232,"score_spread":0.2906565815534804,"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."}}