{"id":"W4386251031","doi":"10.1038/s41467-023-40909-3","title":"Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families","year":2023,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital; University of Toronto","funders":"Bill and Melinda Gates Foundation","keywords":"Exome sequencing; Mendelian inheritance; Identification (biology); Genetics; Disease; Computational biology; Exome; Biology; Bioinformatics; Phenotype; Medicine; 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":[0.02093698,0.0007464752,0.0009316017,0.003104386,0.001072171,0.002226788,0.001123087,0.001062912,0.00265998],"category_scores_gemma":[0.06461202,0.000440977,0.0008194357,0.002304642,0.001137336,0.001196296,0.002203659,0.0007243714,0.0008387279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009184149,"about_ca_system_score_gemma":0.0008653191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003816754,"about_ca_topic_score_gemma":0.003899687,"domain_scores_codex":[0.971487,0.01307099,0.003638791,0.004769747,0.005388828,0.001644633],"domain_scores_gemma":[0.9452325,0.03618499,0.005537425,0.008694039,0.002880884,0.001470209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004600313,0.0000468298,0.9165799,0.0002162227,0.0005597409,0.007657266,0.00149734,0.002876082,0.004661518,0.003518421,0.003190852,0.0587357],"study_design_scores_gemma":[0.00006116163,0.0002278475,0.8966511,0.0005684958,0.001227309,0.03175987,0.001876955,0.01663615,0.0109734,0.01226351,0.02763036,0.0001238772],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9669462,0.00442127,0.0172123,0.001706509,0.0001469192,0.00006547939,0.001984698,0.0002286428,0.007288048],"genre_scores_gemma":[0.9940736,0.0008298387,0.003495211,0.0004218519,0.0000542341,0.00002825696,0.0008407717,0.00004224969,0.0002138481],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02093698,"threshold_uncertainty_score":0.1107267,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01208196404947506,"score_gpt":0.2831291964305033,"score_spread":0.2710472323810282,"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."}}