{"id":"W2059478287","doi":"10.5339/qfarf.2012.bmp54","title":"Identification of novel genes causing autosomal recessive disorders in Qatari population using whole exome sequencing","year":2012,"lang":"en","type":"article","venue":"Qatar Foundation Annual Research Forum Volume 2012 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":"Genetics; Exome sequencing; Biology; Consanguinity; Exome; Population; 1000 Genomes Project; Candidate gene; Disease gene identification; Allele frequency; Gene; Allele; Mutation; Medicine; Genotype; Single-nucleotide polymorphism","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":[0.0003436661,0.0003909859,0.0004370487,0.001455225,0.0004511487,0.0005677576,0.000297921,0.0005269377,0.002776644],"category_scores_gemma":[0.0005011793,0.0001413144,0.0006613129,0.001348816,0.0001687647,0.0002182693,0.0003492065,0.0003749343,0.0003318815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002797641,"about_ca_system_score_gemma":0.0002936804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002331662,"about_ca_topic_score_gemma":0.004505069,"domain_scores_codex":[0.9997882,0.00002105743,0.00002465039,0.00009359806,0.00004029636,0.0000322385],"domain_scores_gemma":[0.9998289,0.00006082229,0.00005298648,0.0000109459,0.00003005611,0.00001618196],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009744857,0.0002344938,0.4301368,0.001980044,0.0009883224,0.03037239,0.002201306,0.00394165,0.4153956,0.00173811,0.008438383,0.1035985],"study_design_scores_gemma":[0.0001521961,0.0003353661,0.9308907,0.000311788,0.0007855359,0.02184545,0.0008230524,0.005927006,0.01490232,0.001556534,0.0224062,0.00006376287],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9769852,0.004354323,0.007044379,0.0005656395,0.00005391628,0.0001240393,0.009508229,0.0001113459,0.00125291],"genre_scores_gemma":[0.9507923,0.004156711,0.02131485,0.0008796572,0.00008830146,0.0001697668,0.02031176,0.00005109882,0.002235674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002776644,"threshold_uncertainty_score":0.009288847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04457963124072765,"score_gpt":0.3669321701375295,"score_spread":0.3223525388968018,"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."}}