{"id":"W2056040078","doi":"10.1111/j.1399-0004.2010.01481.x","title":"A founder mutation in <i>BBS2</i> is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; University of Manitoba; Vancouver General Hospital; Children's Hospital Research Institute of Manitoba; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa; Alberta Children's Hospital; University of Alberta","funders":"Institute of Genetics; Canadian Institutes of Health Research","keywords":"Genetics; Founder effect; Biology; Population; Genetic heterogeneity; Ciliopathies; Ciliopathy; Single-nucleotide polymorphism; Mutation; Bardet–Biedl syndrome; SNP; Locus (genetics); Disease gene identification; Gene; Exome sequencing; Allele; Haplotype; Medicine; Genotype; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009126058,0.0002009251,0.0003179176,0.00008183874,0.00003658116,0.00002225806,0.0003717025,0.0003587792,0.00003100442],"category_scores_gemma":[0.0005298514,0.0001808667,0.0002003839,0.0002050751,0.0002295908,0.000003587345,0.00008688732,0.0002262707,0.000002940785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006316736,"about_ca_system_score_gemma":0.0001831798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004231345,"about_ca_topic_score_gemma":0.001701305,"domain_scores_codex":[0.9976614,0.0002846048,0.0009712906,0.0005421563,0.0001976794,0.0003429211],"domain_scores_gemma":[0.9988064,0.0002116523,0.0001438204,0.0006517482,0.00007394623,0.0001124073],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001452042,0.001854388,0.9256808,0.0001911779,0.00007117035,0.00003269896,0.0003735406,0.001727649,0.0524009,0.00006133039,0.0006584437,0.01549592],"study_design_scores_gemma":[0.002164299,0.0008091743,0.9793127,0.00002535563,0.00003814853,0.00002311489,0.00009997686,0.002508207,0.00586434,0.005475787,0.003391568,0.0002873773],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996484,0.0004606718,0.001071867,0.0007584064,0.0002376097,0.0007747001,0.00007059041,0.00000449358,0.0001375957],"genre_scores_gemma":[0.9935209,0.0002884906,0.004554105,0.001272494,0.00008272606,0.00009224907,0.000131176,0.00002591619,0.00003195503],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05363192,"threshold_uncertainty_score":0.7375529,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03217684600993333,"score_gpt":0.3498439471193863,"score_spread":0.317667101109453,"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."}}