{"id":"W2075458118","doi":"10.1038/ng.3113","title":"Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":156,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Université du Québec à Chicoutimi; Canada's Michael Smith Genome Sciences Centre; Centre hospitalier universitaire de Québec; BC Cancer Agency; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Canadian Institutes of Health Research; CHU Sainte-Justine Foundation; Université de Montréal; University of Toronto; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Fondation Leducq; Fondation du Grand défi Pierre Lavoie; Ontario Genomics Institute; Génome Québec; Genome British Columbia; University of Ottawa; McGill University; Ontario Genomics; Genome Canada","keywords":"Biology; Zebrafish; Cohesin; Pathological; Cell biology; Endocrinology; Internal medicine; Genetics; Chromosome; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003125652,0.0001278622,0.0001250861,0.00006786462,0.00007299967,0.00002284943,0.00009860277,0.0004628849,0.000004652041],"category_scores_gemma":[0.0002768026,0.0001233853,0.00003698728,0.0001207639,0.0001025756,0.000001458285,0.0001093609,0.0003503072,0.000005289043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008825227,"about_ca_system_score_gemma":0.00004440328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006129462,"about_ca_topic_score_gemma":0.00008688281,"domain_scores_codex":[0.9990608,0.00008650916,0.0001310295,0.0003463164,0.0001030888,0.0002722226],"domain_scores_gemma":[0.9995216,0.00004187974,0.00003126391,0.0002619778,0.00006389,0.0000794178],"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":[0.00002978901,0.00005886565,0.06049486,0.00001957608,0.00002144382,0.000008268041,0.00006833029,0.00004183607,0.9363784,0.00005865331,0.0003452726,0.002474731],"study_design_scores_gemma":[0.002847212,0.0008931634,0.3353815,0.00005293819,0.00004618937,0.001222134,0.0002234204,0.001778094,0.5888085,0.0003348698,0.06769126,0.0007207562],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948151,0.003632953,0.0005454106,0.0001990132,0.0001393048,0.0001657871,0.000009110279,0.000008715369,0.0004846129],"genre_scores_gemma":[0.9963338,0.0001958909,0.002558955,0.0003571755,0.0002586662,0.00001148132,0.00008036855,0.00001953316,0.0001841093],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3475699,"threshold_uncertainty_score":0.5031506,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01053513791214014,"score_gpt":0.2867796058379199,"score_spread":0.2762444679257798,"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."}}