{"id":"W4282823416","doi":"10.22541/au.165521030.01295029/v1","title":"Dual BRCA1 & BRCA2 Pathogenic Variants in an Adolescent with Syndromic Intellectual Disability","year":2022,"lang":"en","type":"preprint","venue":"","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Intellectual disability; Exome sequencing; Exome; Medicine; Genetics; Psychiatry; Biology; Mutation; Gene","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":[0.0001384996,0.0006469006,0.0004339046,0.001066612,0.0008626152,0.000617408,0.000336908,0.001231467,0.0020731],"category_scores_gemma":[0.001140323,0.0001995038,0.0002889533,0.0004408525,0.0004915761,0.0003521558,0.0007454732,0.0008877813,0.0003941536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003178825,"about_ca_system_score_gemma":0.0003248141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00230113,"about_ca_topic_score_gemma":0.003056853,"domain_scores_codex":[0.9998688,0.00001434749,0.00001139618,0.00003698995,0.00002970741,0.0000387968],"domain_scores_gemma":[0.9996394,0.0001341564,0.00006325851,0.00001198311,0.00003135297,0.0001198125],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000671387,0.0000677004,0.06674111,0.0000332202,0.00001593618,0.9222679,0.0008155304,0.0001699252,0.003273219,0.000481173,0.001139803,0.004927487],"study_design_scores_gemma":[0.00001112511,0.0001099285,0.05365689,0.00005307937,0.00003143769,0.9400002,0.0007001605,0.0005535892,0.001659542,0.000511133,0.002697005,0.0000158935],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923908,0.0007731359,0.001171668,0.001559474,0.00009838868,0.00002326935,0.0004452658,0.00006819449,0.00346965],"genre_scores_gemma":[0.9968355,0.0005199412,0.0008795342,0.0002888659,0.00009805669,0.000006368229,0.0001432079,0.00002989425,0.001198614],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00230113,"threshold_uncertainty_score":0.006935239,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02622652317039557,"score_gpt":0.2942709706058845,"score_spread":0.2680444474354889,"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."}}