{"id":"W2086384819","doi":"10.1002/ajmg.a.33516","title":"Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Monosomy; Hypotonia; Genetics; Biology; Phenotype; Gene; Haploinsufficiency; Candidate gene; Chromosomal Deletion; Chromosome; Karyotype","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":[0.000452032,0.0001104578,0.000336299,0.00006001918,0.00001818846,0.000006201344,0.0002090489,0.0001130513,0.00004045693],"category_scores_gemma":[0.0001483454,0.00009945572,0.00009747467,0.00009852399,0.0006111923,0.000003439933,0.0001074571,0.000194849,3.266538e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004710206,"about_ca_system_score_gemma":0.0002540985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003849971,"about_ca_topic_score_gemma":0.00007438617,"domain_scores_codex":[0.9984396,0.0001440812,0.0008721378,0.0001486121,0.0002588783,0.0001367052],"domain_scores_gemma":[0.99893,0.00003170794,0.0005510267,0.0001653319,0.0001992161,0.0001227625],"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":[0.0001618634,0.000315466,0.08905085,0.00003036785,0.0001879241,0.00001590486,0.0005887362,0.00006936831,0.885383,0.0003731941,0.00002250489,0.02380086],"study_design_scores_gemma":[0.004197733,0.008067704,0.2279057,0.000292434,0.0002890344,0.0003815383,0.002060754,0.0005588686,0.7320734,0.0004457742,0.02315293,0.0005740738],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912586,0.0003004128,0.007651353,0.0004374797,0.0002149994,0.00007778589,0.00002333999,8.916292e-7,0.00003511268],"genre_scores_gemma":[0.9911483,0.002676502,0.005793659,0.000152282,0.0001859104,0.000004319198,0.00002129722,0.00001083361,0.000006918322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1533095,"threshold_uncertainty_score":0.4055687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01620171383557044,"score_gpt":0.2949903067825966,"score_spread":0.2787885929470262,"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."}}