{"id":"W2088965485","doi":"10.1371/journal.pgen.1004925","title":"Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment","year":2015,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Language Development and Disorders","field":"Psychology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"St. John's College, University of Oxford; Medical Research Council; National Institutes of Health; National Cancer Institute; Universidad de Chile; Max-Planck-Gesellschaft; European Commission; Queen Margaret University; University of Aberdeen; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS); King's College London; National Institute for Health and Care Research; Cancer Research UK; Wellcome Trust; University of Oxford; National Institute on Aging; Universidad del Tolima; Hospital for Sick Children; V Foundation for Cancer Research","keywords":"Biology; Nonsynonymous substitution; Exome sequencing; Genetics; Exome; Specific language impairment; Population; Minor allele frequency; Allele frequency; Allele; Founder effect; Genetic variation; Evolutionary biology; Gene; Mutation; Demography; Developmental psychology; Genome; Psychology; Haplotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002803541,0.0001631926,0.0001911095,0.0001873644,0.00004498742,0.00004251628,0.0001596272,0.0001493794,0.0003256236],"category_scores_gemma":[0.0000468103,0.0001572825,0.00003237709,0.0001959137,0.00001989008,0.00006992257,0.00003151888,0.0001145161,0.00009606664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001650261,"about_ca_system_score_gemma":0.00008216222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001813365,"about_ca_topic_score_gemma":0.0003499393,"domain_scores_codex":[0.9987136,0.0001266011,0.0003182256,0.0003241675,0.0001649707,0.0003523998],"domain_scores_gemma":[0.9993517,0.00004186638,0.0001321407,0.0002658467,0.00006220631,0.0001462741],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008711403,0.000984034,0.8161492,0.00005173609,0.0002255017,0.0001323108,0.1571221,0.0004070087,0.01232499,0.0004452016,0.001622564,0.009664181],"study_design_scores_gemma":[0.01738874,0.002323996,0.8695908,0.00009921101,0.0002213767,0.00002976918,0.06241561,0.03252141,0.0070393,0.005605793,0.0009231406,0.001840814],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997062,0.000710164,0.0005323718,0.00003726834,0.0002882057,0.0007112572,0.00004142148,0.00007888975,0.0005384446],"genre_scores_gemma":[0.9968554,0.00001416473,0.002272936,0.0001074312,0.00009965695,0.00008756526,0.0003685426,0.00003838618,0.0001559316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09470651,"threshold_uncertainty_score":0.6413792,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06425263837655941,"score_gpt":0.3188933326318786,"score_spread":0.2546406942553192,"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."}}