{"id":"W2967414304","doi":"10.1101/730952","title":"Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Alan B. Slifka Foundation; McMaster University; Teva Pharmaceutical Industries; Tourette Association of America; Allison Family Foundation; Simons Foundation; Simons Foundation Autism Research Initiative; Brain and Behavior Research Foundation","keywords":"Genetics; Candidate gene; Biology; Autism; Gene; Exome sequencing; Proband; Bioinformatics; Phenotype; Mutation; Psychology; Psychiatry","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":[0.0002170842,0.0003412355,0.0002728285,0.001125775,0.0002246778,0.0002488673,0.0001409645,0.0003778718,0.00455192],"category_scores_gemma":[0.0009169587,0.0001201915,0.0002973464,0.0006013145,0.0002300027,0.0001055099,0.0002626907,0.0002259215,0.0003190989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001492101,"about_ca_system_score_gemma":0.00009909309,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001149227,"about_ca_topic_score_gemma":0.001822619,"domain_scores_codex":[0.9997494,0.00003606577,0.0000260443,0.00009403031,0.00006644185,0.00002802774],"domain_scores_gemma":[0.9994301,0.0002092424,0.0002390722,0.0000413689,0.00002997272,0.00005006258],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001264583,0.00009000584,0.6349091,0.0001718513,0.0003549115,0.008570549,0.0003000737,0.0009119808,0.3302682,0.0004713496,0.001141242,0.02154622],"study_design_scores_gemma":[0.00003444598,0.0001075944,0.9641141,0.00002458895,0.0001225355,0.009932843,0.0001547599,0.001711968,0.02203892,0.0003667079,0.00138058,0.00001098532],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960653,0.0002542135,0.002040494,0.0000512099,0.000009073631,0.00001045732,0.0009653518,0.00004762883,0.0005564383],"genre_scores_gemma":[0.9970676,0.0001178503,0.001583979,0.00003512194,0.000007900096,0.000006521929,0.0007584139,0.000017736,0.0004049071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00455192,"threshold_uncertainty_score":0.01522768,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05579089609545228,"score_gpt":0.2649989535722869,"score_spread":0.2092080574768346,"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."}}