{"id":"W3161166543","doi":"10.1016/j.ygeno.2021.05.015","title":"Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A","year":2021,"lang":"en","type":"article","venue":"Genomics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"King Abdullah International Medical Research Center; Agence Nationale de la Recherche","keywords":"Biology; Ciliogenesis; Polydactyly; Cilium; Sanger sequencing; Genetics; Exome sequencing; Missense mutation; Locus (genetics); Gene; Homology (biology); DNA sequencing; Mutation","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":[0.000122993,0.0007943427,0.00040944,0.001342332,0.0004751463,0.0003237339,0.0004753286,0.0006405896,0.002514267],"category_scores_gemma":[0.0004037105,0.0002202358,0.0002878447,0.0005912951,0.000489616,0.000151758,0.0003924211,0.0006194855,0.00031369],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002358039,"about_ca_system_score_gemma":0.000233873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009858726,"about_ca_topic_score_gemma":0.001092917,"domain_scores_codex":[0.9997757,0.00003119654,0.00001870293,0.0000659995,0.00007058774,0.00003788609],"domain_scores_gemma":[0.9996345,0.0000942219,0.0001257224,0.00001442869,0.00001766719,0.0001134331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008114338,0.0001837185,0.0166687,0.00005137794,0.0000790051,0.03431204,0.0002260368,0.0003229755,0.9404665,0.001560741,0.0002640512,0.005053417],"study_design_scores_gemma":[0.0003361194,0.000946264,0.4945112,0.00006640003,0.0003512089,0.2523148,0.0006193211,0.009088722,0.2322941,0.002177286,0.007189244,0.0001053388],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968924,0.0001924294,0.001686197,0.00009190688,0.00002093619,0.00001753269,0.0002450411,0.00003886145,0.0008147038],"genre_scores_gemma":[0.9976678,0.00007640248,0.00125455,0.00003737217,0.000016149,0.000008430799,0.0001712012,0.00001910379,0.0007488965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002514267,"threshold_uncertainty_score":0.008411109,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01731475578125568,"score_gpt":0.2516895031987593,"score_spread":0.2343747474175036,"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."}}