{"id":"W2062411563","doi":"10.5339/qfarf.2013.biop-032","title":"Using whole exome sequencing as a molecular diagnostic tool to identify disease-causing mutations in consanguineous families in Qatar","year":2013,"lang":"en","type":"article","venue":"Qatar Foundation Annual Research Forum Volume 2013 Issue 1","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre","funders":"","keywords":"Consanguinity; Exome sequencing; Genetics; Disease gene identification; Biology; Exome; Genetic counseling; Disease; Genetic heterogeneity; Human genetics; DNA sequencing; Molecular diagnostics; Gene; Mutation; Medicine; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0009441993,0.0004933724,0.0002314526,0.001220476,0.0005996733,0.0004473577,0.0002470265,0.0004521234,0.001226721],"category_scores_gemma":[0.001330352,0.000162162,0.000307004,0.000551181,0.0003857956,0.0001903318,0.0005572776,0.0002743346,0.0002117058],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002661958,"about_ca_system_score_gemma":0.0003475972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00473389,"about_ca_topic_score_gemma":0.008964871,"domain_scores_codex":[0.9994984,0.0001110964,0.00004482155,0.0001873732,0.0000881848,0.00007019711],"domain_scores_gemma":[0.9996389,0.000143875,0.00006205407,0.00003132502,0.00008259626,0.0000412108],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006474819,0.0001737133,0.6402245,0.0005670568,0.0005231974,0.02571988,0.004554177,0.002325743,0.2620748,0.000811343,0.002548346,0.05982974],"study_design_scores_gemma":[0.00006503084,0.0005122517,0.9196948,0.0002237311,0.0005067823,0.02440378,0.001537631,0.004507172,0.03707056,0.0008896444,0.010533,0.0000555945],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899132,0.001410676,0.006221224,0.000242735,0.00002806926,0.00008966844,0.000947069,0.00005903266,0.001088271],"genre_scores_gemma":[0.9864573,0.0009500672,0.01016404,0.000484822,0.00002170947,0.00006530961,0.00126815,0.00002436203,0.000564087],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00473389,"threshold_uncertainty_score":0.009412646,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03643978958895629,"score_gpt":0.3768634698920862,"score_spread":0.3404236803031299,"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."}}