{"id":"W4400005116","doi":"10.1002/ajmg.a.63789","title":"Genome sequencing identifies biallelic variants in <i>SCLT1</i> in a patient with syndromic nephronophthisis: Reflections on the <i>SCLT1</i>‐related ciliopathy spectrum","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Ciliopathy; Ciliopathies; Nephronophthisis; Bardet–Biedl syndrome; Genetics; Cilium; Biology; Genetic heterogeneity; Exome sequencing; Disease; Joubert syndrome; Medicine; Computational biology; Bioinformatics; Gene; Pathology; 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":[0.0001303413,0.0006295794,0.0003352079,0.0009160627,0.0006382579,0.0005936052,0.0003587553,0.001538398,0.001005287],"category_scores_gemma":[0.0006348768,0.0002523209,0.0003382674,0.0004960248,0.0005350153,0.0003488207,0.0004699684,0.0007869566,0.00025688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003146833,"about_ca_system_score_gemma":0.0002804125,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002053288,"about_ca_topic_score_gemma":0.002644337,"domain_scores_codex":[0.999841,0.00001419756,0.00002435134,0.00005395836,0.00003324956,0.00003332976],"domain_scores_gemma":[0.9996537,0.0001505727,0.00007044625,0.00001171698,0.00002839675,0.00008519795],"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":[0.0001055747,0.00004586782,0.04990898,0.0000681974,0.00003438258,0.898129,0.0008343839,0.0002532357,0.0391814,0.0005505396,0.001408703,0.0094798],"study_design_scores_gemma":[0.000009622691,0.0001086086,0.0514304,0.00003131988,0.00006024734,0.9378505,0.0003711768,0.0006206008,0.007251224,0.0003176306,0.001921427,0.00002730274],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904467,0.001658886,0.001927169,0.002021677,0.00007565478,0.00003933004,0.0003811815,0.0001242336,0.003325043],"genre_scores_gemma":[0.996229,0.0008731557,0.001416115,0.0006143441,0.000100054,0.000006775737,0.0001316006,0.00003258697,0.0005963616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002053288,"threshold_uncertainty_score":0.00408262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01241243027956472,"score_gpt":0.261804721066823,"score_spread":0.2493922907872583,"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."}}