{"id":"W4396968341","doi":"10.1111/pcn.13676","title":"Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder","year":2024,"lang":"en","type":"article","venue":"Psychiatry and Clinical Neurosciences","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Institute for Basic Science; Ministry of Science and ICT, South Korea; Korea Institute of Science and Technology Information; Korea Institute of Science and Technology; Korea University; National Research Foundation; Korea Health Industry Development Institute; Korea Dementia Research Center","keywords":"Autism spectrum disorder; Biology; Genetics; Autism; Phenotype; Gene; Microsatellite; Genome-wide association study; Human genome; Enhancer; Genome; Computational biology; Genotype; Single-nucleotide polymorphism; Allele; Gene expression; Psychology; Developmental psychology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002591629,0.0004480981,0.0002279642,0.0007327655,0.0001492279,0.0002981898,0.000177816,0.0002610504,0.001928829],"category_scores_gemma":[0.0008207459,0.0001410425,0.0003974934,0.0004080976,0.0002958908,0.0001737647,0.0003600639,0.0003659487,0.0002236465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001563236,"about_ca_system_score_gemma":0.0001811277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001325471,"about_ca_topic_score_gemma":0.002187878,"domain_scores_codex":[0.9998434,0.00001834812,0.00001515463,0.00006818435,0.00003819492,0.00001674844],"domain_scores_gemma":[0.9996075,0.0001140558,0.0001836018,0.0000292695,0.00002779049,0.00003774715],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001063345,0.00008291916,0.5437542,0.0002320895,0.0005084629,0.001560467,0.0002401513,0.006153044,0.409864,0.0003109735,0.0004634478,0.03576692],"study_design_scores_gemma":[0.00001864106,0.0001179984,0.9627484,0.00003588313,0.0001626615,0.002010486,0.0001014751,0.01178528,0.02156402,0.0008717216,0.000563668,0.00001977066],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954594,0.0002673972,0.002923957,0.00003944609,0.00000407444,0.000007280063,0.0008158266,0.000103097,0.000379556],"genre_scores_gemma":[0.9967866,0.0001229105,0.002269952,0.0000246353,0.000003075661,0.000009602411,0.0005874613,0.00001829829,0.0001775419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001928829,"threshold_uncertainty_score":0.00645262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06751989181916021,"score_gpt":0.3738979248780826,"score_spread":0.3063780330589224,"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."}}