{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009948248,0.0001473317,0.0001761272,0.0000471548,0.00008691588,0.00005652446,0.0001351919,0.0001408981,0.00001629033],"category_scores_gemma":[0.0001178938,0.0001517266,0.00007923911,0.0001036567,0.00003894131,0.000004759513,0.0001393601,0.00006835759,0.000004771089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002803452,"about_ca_system_score_gemma":0.0003203676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004792853,"about_ca_topic_score_gemma":0.001587628,"domain_scores_codex":[0.9990932,0.00002059001,0.0002068769,0.0003467117,0.0000460473,0.0002865244],"domain_scores_gemma":[0.9995254,0.00002225201,0.0000660489,0.0002227476,0.0001030025,0.00006055038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003405293,0.0000920002,0.0006224019,0.0000268864,0.00006742359,0.0000587145,0.0001728888,0.00005104081,0.99077,0.0007863473,0.00009287369,0.006918843],"study_design_scores_gemma":[0.007767624,0.001504255,0.004181762,0.00008676082,0.0001967242,0.001071184,0.001363022,0.0004761728,0.5902741,0.001709072,0.3896208,0.001748506],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99235,0.00265445,0.001297567,0.0002728136,0.000337836,0.0001709607,0.0002285011,0.000007697742,0.002680157],"genre_scores_gemma":[0.9941098,0.000591755,0.002235558,0.0003536078,0.0003959719,0.00002128121,0.000528394,0.00002490573,0.001738733],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4004959,"threshold_uncertainty_score":0.618723,"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."}}