{"id":"W2028018746","doi":"10.1111/cge.12280","title":"Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Qatar National Research Fund; Canada Research Chairs","keywords":"Proband; Exome sequencing; Genetics; Consanguinity; Nonsense mutation; Sanger sequencing; Biology; Disease gene identification; Compound heterozygosity; Noonan syndrome; Medical genetics; Exome; Mutation; Gene; Medicine; Missense mutation","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":[],"consensus_categories":[],"category_scores_codex":[0.0002342053,0.0001451338,0.0001972534,0.00006092145,0.0000367936,0.00003611632,0.0001739469,0.000164872,0.00004124793],"category_scores_gemma":[0.0001905924,0.0001428453,0.00008126852,0.0001382182,0.0001802482,0.000004312196,0.0001069672,0.0001357662,0.0000452306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003207822,"about_ca_system_score_gemma":0.0002079267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009478439,"about_ca_topic_score_gemma":0.000167443,"domain_scores_codex":[0.9985302,0.0001037411,0.0005650573,0.0004161611,0.0001009945,0.0002838283],"domain_scores_gemma":[0.9991645,0.00004503725,0.00008362141,0.0004784997,0.00008345073,0.0001448895],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00006576245,0.0002883764,0.374789,0.00005674116,0.00004235661,0.00005537008,0.0001301817,0.007518773,0.5428069,0.00007037556,0.001581362,0.07259484],"study_design_scores_gemma":[0.002075409,0.0003534689,0.8933864,0.0001312729,0.00004158783,0.0000134106,0.0008086737,0.008338061,0.02924256,0.001306182,0.06340188,0.0009011471],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922281,0.006095453,0.0006214611,0.0002491536,0.0001829943,0.0002650387,0.00002035275,0.000008418646,0.0003290414],"genre_scores_gemma":[0.9939334,0.003150698,0.001449762,0.0005484025,0.0002511294,0.00005529086,0.00006549471,0.00002336431,0.0005224213],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5185974,"threshold_uncertainty_score":0.5825064,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0547119242862404,"score_gpt":0.3409915597142721,"score_spread":0.2862796354280317,"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."}}