{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002291026,0.0001646866,0.0001787728,0.0001570265,0.000394527,0.00003932655,0.0005417466,0.00008930628,0.0002598096],"category_scores_gemma":[0.0003250664,0.0001638568,0.00008209809,0.0002999695,0.0003714736,0.00004280335,0.0001395998,0.0001640583,0.0001910619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004263723,"about_ca_system_score_gemma":0.00005313384,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004302496,"about_ca_topic_score_gemma":0.0001707918,"domain_scores_codex":[0.9980563,0.0001074571,0.0003028643,0.0007220965,0.0003876422,0.0004236754],"domain_scores_gemma":[0.9982072,0.000137646,0.000200444,0.001353824,0.00001951009,0.00008134996],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003853849,0.001074416,0.01941693,0.0001470987,0.00003412613,0.00000513354,0.002394032,0.000140825,0.2474875,0.7062815,0.004648074,0.01798494],"study_design_scores_gemma":[0.001351496,0.003212187,0.1194545,0.00003308036,0.00003105658,0.000005151546,0.00002979167,0.003584547,0.6003788,0.2443253,0.02720471,0.0003893704],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889777,0.0001096671,0.003682776,0.001967187,0.000134045,0.001012603,0.0001317933,0.0001111039,0.003873077],"genre_scores_gemma":[0.9975534,0.0001348749,0.0005105035,0.0001351608,0.0001113164,0.00006686977,0.00001032519,0.00005977512,0.001417736],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4619562,"threshold_uncertainty_score":0.6681887,"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."}}