{"id":"W2737738777","doi":"10.1534/g3.117.1124","title":"A Large Deletion in the <i>NSDHL</i> Gene in Labrador Retrievers with a Congenital Cornification Disorder","year":2017,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Bern","keywords":"Biology; Genetics; Exon; Gene; Daughter; Candidate gene; Phenotype; Chromosome; Genetic heterogeneity; Molecular biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003728407,0.0002679305,0.0001915044,0.00007951221,0.0002687121,0.0001194603,0.0007480819,0.0001931614,0.00002011227],"category_scores_gemma":[0.00002099466,0.0002088042,0.00007750047,0.0001484583,0.0001964588,0.000008252882,0.0001704304,0.000128331,0.00001733058],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002482548,"about_ca_system_score_gemma":0.0001699565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007632621,"about_ca_topic_score_gemma":0.002425076,"domain_scores_codex":[0.9982665,0.0001380828,0.0003104201,0.0005450644,0.0002631803,0.000476822],"domain_scores_gemma":[0.9984159,0.00001537857,0.0001930863,0.001188031,0.000100031,0.00008753385],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000528374,0.0006570352,0.6244025,0.00005345187,0.0001391716,0.00008674199,0.001274372,0.001474022,0.0771713,0.00007733085,0.0005898929,0.2935458],"study_design_scores_gemma":[0.005144733,0.0006974056,0.6922107,0.00002423306,0.0001211588,0.00009844566,0.002447195,0.0006381925,0.02480029,0.0001498864,0.2726786,0.0009891511],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8984602,0.09859809,0.001379102,0.000295299,0.0001237725,0.0005999723,0.00008514819,0.00000829457,0.0004500966],"genre_scores_gemma":[0.9704567,0.02751699,0.0008567116,0.0003209518,0.000189884,0.00009888822,0.0002883,0.00003984348,0.0002317943],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2925567,"threshold_uncertainty_score":0.8514788,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007738014817601698,"score_gpt":0.2338200160277674,"score_spread":0.2260820012101657,"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."}}