{"id":"W2101209070","doi":"10.1136/jmg.2010.079426","title":"Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (<i>CDH8</i>) in susceptibility to autism and learning disability","year":2010,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":124,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; McMaster University; University of Toronto","funders":"National Institutes of Health; National Institute of Mental Health; Medical Research Council; Ontario Genomics Institute; Wellcome Trust; Nancy Lurie Marks Family Foundation; Ontario Genomics; Genome Canada; Simons Foundation; Autism Speaks","keywords":"Sanger sequencing; Genetics; Autism; Genetic linkage; Biology; Copy-number variation; SNP array; Single-nucleotide polymorphism; Gene; Medicine; DNA sequencing; Genotype; Genome; Psychiatry","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":[0.000258256,0.0005078081,0.0003111051,0.0009354945,0.0004087729,0.00027209,0.0003256571,0.0004804971,0.006109839],"category_scores_gemma":[0.0007867504,0.0001843022,0.0002640721,0.0005166843,0.0004805301,0.0001363483,0.0005036324,0.0003491665,0.0004504953],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001996054,"about_ca_system_score_gemma":0.0001358455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007123543,"about_ca_topic_score_gemma":0.001031155,"domain_scores_codex":[0.9997631,0.00003786939,0.00002244002,0.00008411319,0.0000452415,0.00004726645],"domain_scores_gemma":[0.9993072,0.0002361101,0.0003051086,0.0000367757,0.00002519183,0.00008977416],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002339694,0.0001541106,0.5304783,0.0002548654,0.0003279776,0.04813694,0.001147882,0.0008449072,0.369582,0.001600266,0.00100451,0.04412849],"study_design_scores_gemma":[0.0001600305,0.0006384245,0.8832385,0.00006263814,0.0002059474,0.08255911,0.000347134,0.0009581405,0.02626289,0.001515427,0.004025437,0.00002635013],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970228,0.0003830825,0.0009932156,0.00005859841,0.0000100695,0.00001418475,0.0001604853,0.00005653349,0.001301028],"genre_scores_gemma":[0.9986699,0.0001030316,0.0006905004,0.00001508925,0.00001478764,0.00001088886,0.0001428261,0.000005158344,0.0003479137],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006109839,"threshold_uncertainty_score":0.02043945,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02765627105079722,"score_gpt":0.3331069169595089,"score_spread":0.3054506459087117,"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."}}