{"id":"W3170137356","doi":"10.1002/ajmg.a.62398","title":"Homozygous <scp> <i>WNT9B</i> </scp> variants in two families with bilateral renal agenesis/hypoplasia/dysplasia","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; National Center for Complementary and Integrative Health; National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; Genome Canada; Canadian Institutes of Health Research; Genome British Columbia; Ontario Genomics Institute","keywords":"Renal agenesis; Hypoplasia; Proband; Renal dysplasia; Agenesis; Oligohydramnios; Dysplasia; Medicine; Kidney disease; Genitourinary system; Kidney; Anatomy; Internal medicine; Biology; Fetus; Genetics; Pregnancy; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0007080036,0.003731408,0.001369078,0.004210195,0.003008145,0.001330186,0.00143322,0.002954214,0.004815354],"category_scores_gemma":[0.003277564,0.001405346,0.001309084,0.002084907,0.002733404,0.0007495992,0.002378601,0.001932042,0.0007062024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001076701,"about_ca_system_score_gemma":0.0008543395,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006111327,"about_ca_topic_score_gemma":0.00464859,"domain_scores_codex":[0.9978975,0.0002645023,0.000204539,0.0006336422,0.000553421,0.0004464425],"domain_scores_gemma":[0.9974777,0.0006169765,0.000556783,0.0001352323,0.0002415136,0.0009718203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002073157,0.000258843,0.04255838,0.00006987086,0.0000922467,0.9357526,0.00190045,0.0001555772,0.01326206,0.0006523101,0.0006751008,0.00441513],"study_design_scores_gemma":[0.00006470989,0.0002979509,0.0565958,0.000052268,0.00007256451,0.9381838,0.0005773734,0.000317569,0.002021026,0.0003108095,0.001443008,0.00006316105],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925752,0.0004932671,0.001946976,0.0005839337,0.0001384823,0.0001823038,0.0004393596,0.0001091907,0.003531379],"genre_scores_gemma":[0.9963055,0.0003174027,0.001404028,0.0002893159,0.0001606026,0.00005222494,0.0002017,0.00005790364,0.0012113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006111327,"threshold_uncertainty_score":0.01610893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005445744878835149,"score_gpt":0.2489844328475655,"score_spread":0.2435386879687304,"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."}}