{"id":"W3084315367","doi":"10.1186/s13023-020-01454-0","title":"Further evidence for POMK as candidate gene for WWS with meningoencephalocele","year":2020,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Congenital muscular dystrophy; Genetics; Phenotype; Biology; Muscular dystrophy; Exome sequencing; Nonsense mutation; Dystroglycan; Disease gene identification; Compound heterozygosity; Bioinformatics; Gene; Missense mutation; Extracellular matrix","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":[0.0003091711,0.0007987958,0.0003213719,0.001391606,0.0006588186,0.0003044704,0.0005559887,0.00119424,0.007284942],"category_scores_gemma":[0.00172116,0.0001746204,0.0005097922,0.0005581992,0.0008735816,0.0003894158,0.0004840036,0.0005736636,0.0008162938],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002583188,"about_ca_system_score_gemma":0.0003434806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005213751,"about_ca_topic_score_gemma":0.0002760363,"domain_scores_codex":[0.9997851,0.00002993577,0.00003116935,0.0000548864,0.00004671824,0.00005209083],"domain_scores_gemma":[0.9990128,0.0004430281,0.0002149178,0.00006395901,0.00009017102,0.0001750657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001626097,0.0001893967,0.362117,0.0003688579,0.000180757,0.5884294,0.0005334954,0.0002217738,0.03481027,0.001418702,0.0009738281,0.009130475],"study_design_scores_gemma":[0.0001195976,0.0003724942,0.1797656,0.00009645913,0.0002603704,0.8015634,0.0003374717,0.00107542,0.01158623,0.00115961,0.003639533,0.00002376541],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947568,0.001406158,0.0005911216,0.0004050991,0.00006018241,0.00001917622,0.0001681917,0.00003008855,0.002563213],"genre_scores_gemma":[0.9983017,0.0004143686,0.0004282571,0.0001155465,0.0001437625,0.000008795687,0.0001830025,0.000006718236,0.000397838],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007284942,"threshold_uncertainty_score":0.02437055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02049136060211157,"score_gpt":0.2827522341993634,"score_spread":0.2622608735972518,"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."}}