{"id":"W4317802731","doi":"10.7759/cureus.34085","title":"Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition","year":2023,"lang":"en","type":"article","venue":"Cureus","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"","keywords":"Intellectual disability; Candidate gene; Genetics; Single-nucleotide polymorphism; Medicine; Haplotype; Phenotype; OMIM : Online Mendelian Inheritance in Man; Gene; Genotype; Biology","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":[0.0004108893,0.0002922888,0.0002568739,0.0008378916,0.0004108848,0.0002158401,0.0002373957,0.0002058195,0.003519403],"category_scores_gemma":[0.0003077783,0.0001212804,0.0003381615,0.0005889242,0.0006830202,0.0001981385,0.0004410397,0.0003956265,0.0003546466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002914201,"about_ca_system_score_gemma":0.0003147448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001390304,"about_ca_topic_score_gemma":0.001988615,"domain_scores_codex":[0.9997028,0.00007038349,0.00002116904,0.0000931254,0.00004375994,0.00006880999],"domain_scores_gemma":[0.9997424,0.0001254363,0.000030641,0.00004475868,0.00001869631,0.0000380683],"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":[0.002329203,0.003971743,0.06027526,0.0003296587,0.0001227726,0.004225804,0.001081941,0.0003463928,0.8976457,0.001187364,0.0004042779,0.02807979],"study_design_scores_gemma":[0.0009117536,0.02054087,0.7214448,0.000125325,0.0005230381,0.02630202,0.003047212,0.002286152,0.2023942,0.001351662,0.02100251,0.00007046632],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963924,0.0004798726,0.001119864,0.00002976836,0.000005497935,0.00015287,0.0005893177,0.000006467662,0.001223906],"genre_scores_gemma":[0.9915475,0.001272523,0.003084884,0.00007167722,0.0000167712,0.000276807,0.001896549,0.00001034712,0.001822963],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003519403,"threshold_uncertainty_score":0.01177365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0285907980011314,"score_gpt":0.2810222139759422,"score_spread":0.2524314159748108,"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."}}