{"id":"W2121613431","doi":"10.1186/s12881-015-0183-0","title":"Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features","year":2015,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; Douglas Mental Health University Institute; Université de Montréal; Queen's University; Hôpital Notre-Dame; Hôpital Rivière-des-Prairies; University of Toronto; University Health Network; Montreal Neurological Institute and Hospital; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Medizinische Universität Graz; Hospital for Sick Children; Université de Montréal; University of Toronto; Centre for Addiction and Mental Health; Department of Psychiatry, University of Toronto; Queen's University; Karl-Franzens-Universität Graz; McGill University","keywords":"Genetics; Sanger sequencing; Biology; Haplotype; Exome sequencing; Human genetics; Consanguinity; Disease gene identification; Mutation; Founder effect; Intellectual disability; Phenotype; Autism; Runs of Homozygosity; Population; Exon; Gene; Allele; Genotype; Medicine; Psychiatry; Single-nucleotide polymorphism","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":[0.0002331994,0.001730834,0.0004655366,0.001773847,0.001628878,0.000515317,0.0006388665,0.001312693,0.002653976],"category_scores_gemma":[0.001125774,0.0004860244,0.0004317056,0.0008977426,0.001369106,0.0002543797,0.001141432,0.0005481497,0.0002384203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007381017,"about_ca_system_score_gemma":0.0005792953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006267743,"about_ca_topic_score_gemma":0.007325552,"domain_scores_codex":[0.9995708,0.00004447173,0.00004492511,0.0001894939,0.00007446548,0.00007582774],"domain_scores_gemma":[0.9993101,0.0002432343,0.0001565643,0.00003468104,0.00006524151,0.0001901096],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007442464,0.0002378941,0.2693807,0.0001729962,0.0001583823,0.6590813,0.004079544,0.0006470617,0.05004882,0.0006146588,0.0007489291,0.01408554],"study_design_scores_gemma":[0.0001269972,0.000352374,0.334975,0.00005907885,0.0001278746,0.6548621,0.001399065,0.0007087283,0.004903792,0.0004220334,0.001980421,0.00008252864],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989263,0.00009236829,0.0001884612,0.00005003162,0.00000563512,0.0000184341,0.00009368295,0.00001070196,0.0006144673],"genre_scores_gemma":[0.9992135,0.00005743172,0.0003689283,0.00003795488,0.000007272277,0.00001233049,0.0000931363,0.000006084809,0.0002034569],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006267743,"threshold_uncertainty_score":0.01246256,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01488476577805392,"score_gpt":0.2643746207812714,"score_spread":0.2494898550032175,"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."}}