{"id":"W4391349613","doi":"10.1016/j.xhgg.2024.100273","title":"Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"National Institutes of Health, Pakistan; National Institute of Diabetes and Digestive and Kidney Diseases; National Eye Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Cornelia de Lange Syndrome Foundation; University of California, San Diego; Manchester Biomedical Research Centre; Deutsche Forschungsgemeinschaft; Medical Research Council; Cotton Research and Development Corporation; Foundation Fighting Blindness; National Institutes of Health; National Human Genome Research Institute; Wellcome Trust; Microsoft; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research","keywords":"Biology; Missense mutation; Genetics; Loss function; Human genetics; Phenotype; Population; Indel; Intellectual disability; Gene; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001787227,0.0004377219,0.0002540241,0.001173512,0.000307631,0.0002616816,0.0001900089,0.0003217652,0.001434817],"category_scores_gemma":[0.0007085172,0.0001490528,0.000223262,0.0007322319,0.0003538288,0.000129263,0.0003807189,0.000227255,0.0002514111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001083078,"about_ca_system_score_gemma":0.0001284705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006878233,"about_ca_topic_score_gemma":0.0009671845,"domain_scores_codex":[0.9997209,0.00002773229,0.00003832067,0.00008938666,0.00007981299,0.00004376362],"domain_scores_gemma":[0.9994936,0.0001279201,0.0002435989,0.00003853023,0.00002507982,0.00007141518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009501387,0.0001006544,0.6575055,0.00006912527,0.000150586,0.01570479,0.0004889589,0.0004548414,0.3101232,0.0002922716,0.0003389966,0.01382097],"study_design_scores_gemma":[0.00002395513,0.0003074821,0.909874,0.00001248055,0.0001040336,0.05854449,0.0002716563,0.001700857,0.02771433,0.0002484987,0.00117601,0.00002213842],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993182,0.00004030862,0.0003063643,0.000007448292,0.00000114564,0.000002934838,0.0001442987,0.0000174573,0.0001617674],"genre_scores_gemma":[0.9992889,0.00003366733,0.0002984964,0.000008884429,0.000003381269,0.000002365899,0.0002467578,0.000008812634,0.0001087065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001434817,"threshold_uncertainty_score":0.004799902,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005573232063548968,"score_gpt":0.2100930684733141,"score_spread":0.2045198364097651,"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."}}