{"id":"W3116006493","doi":"10.7554/elife.56883","title":"KDM5A mutations identified in autism spectrum disorder using forward genetics","year":2020,"lang":"en","type":"article","venue":"eLife","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"University of Texas Southwestern Medical Center; Welch Foundation","keywords":"Genetics; Autism spectrum disorder; Biology; Exome sequencing; Gene; Candidate gene; Neurodevelopmental disorder; Autism; Phenotype; Medicine","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":[0.0003032768,0.000741472,0.0003721968,0.001423346,0.0005091124,0.0004276853,0.0003878544,0.0008126217,0.002307165],"category_scores_gemma":[0.0007264689,0.0002362689,0.0006145516,0.0004344414,0.0004276871,0.0001864637,0.0006436817,0.0004835355,0.00045223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003405228,"about_ca_system_score_gemma":0.0003062606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0024315,"about_ca_topic_score_gemma":0.008031721,"domain_scores_codex":[0.9996465,0.00002887874,0.00003795771,0.0001353151,0.0001135169,0.00003767935],"domain_scores_gemma":[0.9998212,0.0000742319,0.00004516494,0.00001473496,0.00001864686,0.00002608318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006093965,0.0001189876,0.07910448,0.0002924457,0.000318756,0.03859466,0.0006305735,0.0009543157,0.820447,0.002015214,0.00229259,0.05462154],"study_design_scores_gemma":[0.0002368683,0.0005753366,0.4757536,0.0005667584,0.000852888,0.1789159,0.0009222692,0.01057533,0.2847719,0.002877399,0.04381146,0.0001401898],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9674338,0.002026776,0.02031738,0.0005275889,0.0001252529,0.0001990231,0.00373113,0.0004035734,0.005235458],"genre_scores_gemma":[0.976552,0.001157049,0.01802889,0.0004161706,0.00002942842,0.00007746364,0.002083724,0.00009268433,0.001562555],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0024315,"threshold_uncertainty_score":0.007718265,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06998715190772656,"score_gpt":0.3346924981286006,"score_spread":0.264705346220874,"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."}}