{"id":"W4310338995","doi":"10.1038/s41398-022-02250-z","title":"Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities","year":2022,"lang":"en","type":"review","venue":"Translational Psychiatry","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Chicoutimi; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Public Health Ontario; Hospital for Sick Children; University Health Network; University of Toronto; McGill University","funders":"CIHR Skin Research Training Centre; National Institute of Mental Health; National Institute on Aging; National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Heart And Stroke Foundation Of Quebec; Université de Paris; National Institute on Drug Abuse; Government of Western Australia; Hospital for Sick Children; Fondazione Umberto Veronesi; Max-Planck-Gesellschaft; Eusko Jaurlaritza; Heart and Stroke Foundation of Canada; Universiteit van Amsterdam; National Institutes of Health; University of Notre Dame Australia; Murdoch University; Edith Cowan University; Agencia Estatal de Investigación; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Institute on Deafness and Other Communication Disorders; Curtin University of Technology; European Commission; Austrian Science Fund; Eunice Kennedy Shriver National Institute of Child Health and Human Development; ZonMw; Raine Medical Research Foundation; National Institute of Child Health and Human Development; Government of Canada; University of Bristol; Manton Foundation; University of Notre Dame; Avera Institute for Human Genetics; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Australian Government; Agence Nationale de la Recherche; Wellcome Trust; Women and Infants Research Foundation; Children's Hospital of Philadelphia; National Science Foundation","keywords":"Genome-wide association study; Single-nucleotide polymorphism; Genetics; Locus (genetics); Genetic association; Biology; Autism; Psychology; Gene; Psychiatry; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.02948922,0.001368203,0.002194751,0.002830522,0.0007467587,0.002881998,0.002341254,0.001519001,0.01131793],"category_scores_gemma":[0.05433443,0.0007364071,0.007728671,0.003473185,0.00124236,0.001270742,0.001986625,0.00255472,0.0007420584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004582555,"about_ca_system_score_gemma":0.0009728785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003150629,"about_ca_topic_score_gemma":0.004653389,"domain_scores_codex":[0.9826629,0.01257023,0.0009316836,0.002668173,0.0008720796,0.0002948808],"domain_scores_gemma":[0.9277713,0.06109658,0.002937299,0.006473876,0.001203607,0.0005172033],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.007289258,0.0003989899,0.7154614,0.003657723,0.1384588,0.003909452,0.000563185,0.03083656,0.01126288,0.01442392,0.01338637,0.06035147],"study_design_scores_gemma":[0.006180382,0.002178268,0.5319238,0.00124429,0.1020287,0.004240655,0.0008683879,0.1730225,0.006055475,0.1392117,0.03268095,0.0003649255],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.7233224,0.0243536,0.2154254,0.007865529,0.001362107,0.000502372,0.02105212,0.001649647,0.004466833],"genre_scores_gemma":[0.9599483,0.00139731,0.03068767,0.001531546,0.0004054972,0.000245642,0.00499774,0.0002108456,0.0005754972],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.02948922,"threshold_uncertainty_score":0.1559557,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05458753720970667,"score_gpt":0.3050985301752935,"score_spread":0.2505109929655869,"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."}}