{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001547616,0.0003824029,0.0007079631,0.0001289755,0.0001664253,0.0000148932,0.0003222952,0.0002402655,0.00004039988],"category_scores_gemma":[0.0002289773,0.0003743349,0.0004367532,0.0001954494,0.000087207,0.00000472085,0.00009795788,0.0001968464,0.000005483895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008468778,"about_ca_system_score_gemma":0.0005601524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003259354,"about_ca_topic_score_gemma":0.00006734226,"domain_scores_codex":[0.9979155,0.0001239911,0.0007752648,0.0005555761,0.0004041898,0.0002254521],"domain_scores_gemma":[0.9987476,0.0003575266,0.0004570016,0.0003072089,0.00007648432,0.00005417437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004466703,0.004516164,0.05386264,0.1238757,0.02161696,0.000003758323,0.01092646,0.005696826,0.009775963,0.002935613,0.01461657,0.7517267],"study_design_scores_gemma":[0.0003004805,0.0001329212,0.001480182,0.0003418898,0.0003833983,0.000001860616,0.0002822972,0.000004654113,0.0000319211,0.0009637176,0.9956319,0.0004447606],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004027082,0.9939302,0.0001158569,0.0001825025,0.0005468115,0.0006220311,0.0001370337,0.00001131837,0.0004271745],"genre_scores_gemma":[0.001582146,0.9921017,0.004664116,0.0001542837,0.0001090869,0.0001436418,0.0008192383,0.00007554282,0.0003502857],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9810153,"threshold_uncertainty_score":0.9998708,"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."}}