{"id":"W3130785851","doi":"10.1038/s41525-021-00173-0","title":"Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh","year":2021,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Memorial University of Newfoundland; SickKids Foundation; Hospital for Sick Children","funders":"Mohammed Bin Rashid University of Medicine and Health Sciences; Al Jalila Foundation","keywords":"Sanger sequencing; Genetics; Exome sequencing; Compound heterozygosity; Genetic heterogeneity; Biology; Mucolipidosis; Exome; Massive parallel sequencing; Hereditary spastic paraplegia; Population; Mutation; Gene; Medicine; DNA sequencing; Phenotype","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":[0.0001824882,0.0005051098,0.0002474604,0.000616257,0.0003413917,0.0003650085,0.0001812302,0.0004615911,0.002977529],"category_scores_gemma":[0.0006204814,0.000133753,0.0001955069,0.0006828259,0.0002721276,0.0001604922,0.0004746165,0.0002833013,0.0005233984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002859707,"about_ca_system_score_gemma":0.0002702021,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004028085,"about_ca_topic_score_gemma":0.005115595,"domain_scores_codex":[0.9998022,0.00002419023,0.00002929369,0.00007399209,0.00004359014,0.00002676733],"domain_scores_gemma":[0.9998381,0.0000612699,0.00003724222,0.00001727106,0.00001973791,0.00002633726],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004527609,0.00006385079,0.5690154,0.0003258518,0.0001589591,0.06338715,0.003225044,0.001154069,0.3118511,0.0006991419,0.001616006,0.04805057],"study_design_scores_gemma":[0.00005652136,0.0002411588,0.8380431,0.0001656496,0.0002283725,0.08302464,0.00363086,0.00134551,0.05185344,0.0007803724,0.02055807,0.00007232129],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993548,0.0003710842,0.001221722,0.0001571206,0.00000784047,0.00002264608,0.002687592,0.00002882117,0.001955254],"genre_scores_gemma":[0.9952286,0.0005515778,0.001506337,0.0001357566,0.000004459135,0.00002298258,0.001563,0.00001648954,0.0009707454],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004028085,"threshold_uncertainty_score":0.009960771,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01240553780156954,"score_gpt":0.239089852696378,"score_spread":0.2266843148948085,"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."}}