{"id":"W2298527758","doi":"10.1172/jci.insight.85461","title":"Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis","year":2016,"lang":"en","type":"article","venue":"JCI Insight","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia Hospital; Université de Sherbrooke; Child and Family Research Institute; McMaster University Medical Centre; University of British Columbia","funders":"Cancer Research UK; Child and Family Research Institute; Canadian Institutes of Health Research; Alexander and Margaret Stewart Trust","keywords":"Microcephaly; Candidate gene; Biology; Genetics; Hypotonia; Gene knockdown; Gene; Zebrafish; Phenotype; Copy-number variation; Microdeletion syndrome; Bioinformatics; Genome","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":[0.00017453,0.0001115852,0.0001715999,0.00008187297,0.000168062,0.00004202911,0.00006153108,0.000113531,0.00006101879],"category_scores_gemma":[0.00001531977,0.00008545327,0.0001545467,0.00007231852,0.00006026929,0.000009865327,0.00007495913,0.00002538375,0.000005427516],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002231942,"about_ca_system_score_gemma":0.00005682648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005109104,"about_ca_topic_score_gemma":0.00007483023,"domain_scores_codex":[0.9991266,0.00004094342,0.0002923738,0.000321482,0.00005552419,0.0001631036],"domain_scores_gemma":[0.9995283,0.00002255969,0.0001139215,0.00019363,0.00008318704,0.00005837],"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":[0.0000738928,0.00004361548,0.04019226,0.00002144845,0.0007781273,0.00000219535,0.00004210478,0.00008645708,0.9561951,0.000310998,0.0002072032,0.002046663],"study_design_scores_gemma":[0.004576878,0.0006972061,0.7005101,0.00006004708,0.002372379,0.0003788334,0.0002715649,0.001164157,0.1672976,0.001280571,0.1200536,0.001337021],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.94651,0.0008436585,0.05209957,0.00008054912,0.0002063889,0.0001140154,0.00009730529,0.000007372777,0.00004116135],"genre_scores_gemma":[0.9955136,0.0004773329,0.002630286,0.00008372902,0.0002482965,0.00001750297,0.000140873,0.0000144509,0.0008739576],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7888975,"threshold_uncertainty_score":0.3484683,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04205008879066743,"score_gpt":0.289437016528106,"score_spread":0.2473869277374386,"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."}}