{"id":"W4283033504","doi":"10.1101/gr.276196.121","title":"<i>HDAC9</i>structural variants disrupting<i>TWIST1</i>transcriptional regulation lead to craniofacial and limb malformations","year":2022,"lang":"en","type":"article","venue":"Genome Research","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Vlaamse regering; Israel Science Foundation; Fonds Wetenschappelijk Onderzoek","keywords":"Biology; Enhancer; Genetics; CTCF; Regulatory sequence; Haploinsufficiency; Coding region; Regulation of gene expression; Gene; Phenotype; Transcription factor","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0006735839,0.000115646,0.0001033608,0.0001382517,0.0008950178,0.00008304133,0.0002665784,0.00006335959,0.0002151781],"category_scores_gemma":[0.00004558301,0.0001292075,0.00005198766,0.0002419795,0.00008542532,0.000007774101,0.0004502239,0.0002356672,0.00001986795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007665055,"about_ca_system_score_gemma":0.0001210462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003315409,"about_ca_topic_score_gemma":0.00002847497,"domain_scores_codex":[0.998463,0.0001456727,0.0002181637,0.0003467728,0.0004215576,0.0004048706],"domain_scores_gemma":[0.9994037,0.00001485683,0.00003728051,0.0002778852,0.0001351093,0.0001311242],"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":[0.0001137101,0.00002925642,0.0009383727,0.00002532882,0.00002503457,0.000002614787,0.0005388149,0.001944681,0.99323,0.001504311,0.0004715121,0.001176291],"study_design_scores_gemma":[0.002426768,0.002428265,0.6741506,0.00001340536,0.00003489777,0.0004309011,0.002498209,0.01322638,0.00398161,0.006540495,0.2930669,0.001201484],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958998,0.0002570803,0.001188767,0.0007491622,0.0001294245,0.0003508998,0.0002909593,0.00001043808,0.001123499],"genre_scores_gemma":[0.9956071,0.00005279672,0.001728672,0.0001510594,0.0002148309,0.0000883264,0.0006256187,0.00002335277,0.001508271],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9892485,"threshold_uncertainty_score":0.6883844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02641623988693616,"score_gpt":0.3069000216882136,"score_spread":0.2804837818012774,"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."}}