{"id":"W2999698688","doi":"10.1093/hmg/ddaa003","title":"Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Down syndrome and intellectual disability research","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto; Douglas Mental Health University Institute; Douglas College; McGill University; Montreal Clinical Research Institute; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Canada First Research Excellence Fund; Canada Research Chairs; Natural Sciences and Engineering Research Council of Canada; Fondation Brain Canada; Faculty of Medicine, McGill University","keywords":"Biology; Chromatin; Epigenomics; Cell biology; Extracellular matrix; Induced pluripotent stem cell; Transcriptome; Cell adhesion; Genetics; Gene expression; Gene; Cell; DNA methylation; Embryonic stem cell","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002018846,0.0003578071,0.0005307739,0.0002120558,0.0002545261,0.0001011192,0.000298017,0.0002046291,0.0007464224],"category_scores_gemma":[0.0002413259,0.0003457937,0.0001203591,0.000336111,0.0002739111,0.00009826783,0.0002613672,0.0004522205,0.00006131404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001311966,"about_ca_system_score_gemma":0.0001048705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006275807,"about_ca_topic_score_gemma":0.00003249492,"domain_scores_codex":[0.9972648,0.0002857262,0.0005887398,0.0007904446,0.0005503739,0.0005199377],"domain_scores_gemma":[0.9983853,0.00003825053,0.00008303759,0.0006680894,0.0001659042,0.0006594703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007778997,0.0003592008,0.0284812,0.0001902964,0.00004244752,0.000128073,0.0009067985,0.00004233466,0.969545,0.00004371596,0.00009886087,0.00008425079],"study_design_scores_gemma":[0.00267071,0.00360723,0.6134644,0.0001657593,0.0001283032,0.00009826413,0.0005540781,0.01013799,0.3682127,0.0002131391,0.0001434422,0.000604],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962484,0.0006241034,0.001165784,0.0002723054,0.00001719497,0.00112616,0.00004553591,0.00007097864,0.000429591],"genre_scores_gemma":[0.9957948,0.00004717396,0.002233495,0.000452444,0.00005568231,0.00008217391,0.001087463,0.00008361691,0.0001631414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6013323,"threshold_uncertainty_score":0.9998994,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02940569413953983,"score_gpt":0.2866994519630691,"score_spread":0.2572937578235293,"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."}}