{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003250306,0.0003291656,0.0001866668,0.0008497378,0.0005493129,0.0003405652,0.0001507868,0.0003066132,0.00143033],"category_scores_gemma":[0.0006291467,0.0001432515,0.0001633846,0.0007197977,0.000288066,0.0001686322,0.0003327952,0.0001777118,0.0001478825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003079632,"about_ca_system_score_gemma":0.0003278042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007416285,"about_ca_topic_score_gemma":0.01280294,"domain_scores_codex":[0.9998097,0.00003840599,0.00001879239,0.00007059788,0.00002859884,0.00003387065],"domain_scores_gemma":[0.999885,0.00003715361,0.00002787511,0.00001113038,0.0000215899,0.00001726919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005147215,0.0001158969,0.7331821,0.0002555416,0.0002158331,0.03491568,0.0048829,0.001171087,0.1589056,0.0007179516,0.001572501,0.06355026],"study_design_scores_gemma":[0.00002325256,0.000220445,0.9699922,0.00005858283,0.0001175163,0.01775737,0.001225195,0.001108574,0.005513151,0.0004107266,0.003553666,0.00001919717],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978308,0.0006368311,0.000707305,0.0001028272,0.000004330201,0.00001254753,0.0002435787,0.000009402136,0.0004524208],"genre_scores_gemma":[0.9975078,0.0005174084,0.0008955609,0.0001558817,0.000005638237,0.00001079167,0.0003972057,0.000004729533,0.0005049197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007416285,"threshold_uncertainty_score":0.01474625,"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."}}