{"id":"W1844528855","doi":"10.1111/cge.12460","title":"Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 <scp>ACMG</scp> guidelines","year":2014,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"St Joseph's Health Centre; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Hospital for Sick Children","funders":"McLaughlin Centre, University of Toronto","keywords":"CLARITY; Context (archaeology); Predictive testing; Genetic testing; Medical genetics; Exome sequencing; Best interests; Psychology; Medicine; Genetics; Mutation; Biology; Political science; Law","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":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000958653,0.0003801886,0.001157699,0.0001060347,0.0001235952,0.00003399514,0.0007215929,0.000597363,7.824049e-7],"category_scores_gemma":[0.01980969,0.0002475652,0.0009337364,0.0004972851,0.0006792044,0.000001789312,0.0003452977,0.0002374612,6.457144e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003299212,"about_ca_system_score_gemma":0.0004658121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008681111,"about_ca_topic_score_gemma":0.0002908611,"domain_scores_codex":[0.9964766,0.0004071028,0.001773727,0.000782875,0.0001875418,0.0003721828],"domain_scores_gemma":[0.993561,0.003953608,0.0006397673,0.0009316296,0.0008186955,0.00009528732],"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":[0.00002193664,0.0002147076,0.01316244,0.00339325,0.002662381,2.102398e-7,0.0000585542,0.001588093,0.00002296136,0.00001431315,0.02031923,0.9585419],"study_design_scores_gemma":[0.0006698379,0.0005999776,0.003311013,0.001025726,0.007044564,0.000002568708,0.00009245361,0.01122781,0.00002910949,0.000274418,0.9754997,0.0002228394],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0090426,0.9794638,0.00671856,0.0003242371,0.0005205005,0.002659426,0.001204635,0.000006705973,0.00005949379],"genre_scores_gemma":[0.002237362,0.9772868,0.01786263,0.0005774482,0.0005594048,0.001007557,0.0002845433,0.00007236692,0.0001118618],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9583191,"threshold_uncertainty_score":0.9999977,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08491196700187677,"score_gpt":0.4374146191318387,"score_spread":0.3525026521299619,"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."}}