{"id":"W2894737965","doi":"10.1007/s00439-018-1939-3","title":"Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder","year":2018,"lang":"en","type":"article","venue":"Human Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; National Institutes of Health; Hospital for Sick Children; Autism Speaks","keywords":"Biology; Genetics; Exome sequencing; Haplotype; Sanger sequencing; Exome; Heritability of autism; Human genetics; Autism; Gene; Copy-number variation; Candidate gene; Genome; Mutation; Allele; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008650091,0.001046643,0.0006791552,0.001141153,0.002127071,0.0008347033,0.001033093,0.00169041,0.01130697],"category_scores_gemma":[0.007146432,0.0004922028,0.001153658,0.0008560756,0.00052421,0.0003727421,0.0009888818,0.001594886,0.001257165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004347088,"about_ca_system_score_gemma":0.0006363383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01058182,"about_ca_topic_score_gemma":0.00794166,"domain_scores_codex":[0.9988199,0.0002020862,0.0001322343,0.0005096341,0.0002162398,0.0001198849],"domain_scores_gemma":[0.9964345,0.001043926,0.0006310864,0.001046256,0.0004374304,0.0004067959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00584334,0.0004171943,0.5857577,0.0004983101,0.002006963,0.06316727,0.00508605,0.001657833,0.276035,0.003221795,0.01297281,0.04333565],"study_design_scores_gemma":[0.0007358686,0.001075531,0.8972585,0.0003391841,0.001455695,0.05957887,0.001546016,0.001244249,0.01740907,0.005533537,0.01367571,0.0001477769],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861313,0.0005967271,0.002670893,0.001353822,0.000385269,0.00007259759,0.005413696,0.0001186229,0.003257102],"genre_scores_gemma":[0.9956568,0.0001919133,0.001142121,0.0001887982,0.00009199321,0.00005332594,0.001479165,0.00005590936,0.001139951],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01130697,"threshold_uncertainty_score":0.03782558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05707348411754268,"score_gpt":0.347041756869723,"score_spread":0.2899682727521803,"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."}}