{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002428463,0.0004184888,0.0003323336,0.001042474,0.0004232968,0.0003627773,0.0002199928,0.0005163859,0.001665428],"category_scores_gemma":[0.000795216,0.0001635901,0.0002135688,0.0005451594,0.0002601783,0.00009222252,0.0002558008,0.0003200806,0.0002464701],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002050474,"about_ca_system_score_gemma":0.0001635032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003358005,"about_ca_topic_score_gemma":0.006325583,"domain_scores_codex":[0.9997469,0.00003695206,0.00002440684,0.00007627055,0.00007533008,0.0000401752],"domain_scores_gemma":[0.9995825,0.0001825861,0.000107558,0.00002207585,0.00004099602,0.00006433626],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008828884,0.0001038126,0.4198992,0.00008852773,0.00016434,0.01866312,0.0005537402,0.0004332518,0.5343361,0.0002306233,0.001079537,0.02356481],"study_design_scores_gemma":[0.00007698502,0.000213239,0.9130446,0.00003633024,0.0001657095,0.02167721,0.0002455763,0.00208201,0.05967382,0.0001632002,0.002588487,0.00003284344],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977905,0.0002250203,0.0006991005,0.00009834701,0.00001397186,0.00001592131,0.0004041482,0.00003237282,0.0007206834],"genre_scores_gemma":[0.9981846,0.0001040923,0.001054311,0.00009390606,0.00001648224,0.00001068218,0.0003064876,0.00001141768,0.0002178876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003358005,"threshold_uncertainty_score":0.006676912,"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."}}