{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002054689,0.000932792,0.0005620616,0.001622641,0.0001898296,0.0004263659,0.0004442302,0.0006643662,0.001455463],"category_scores_gemma":[0.0003381586,0.0002421876,0.0005670126,0.0007437571,0.0004074406,0.0003158362,0.0003713452,0.000281478,0.0003831654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002532563,"about_ca_system_score_gemma":0.0002963258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005119965,"about_ca_topic_score_gemma":0.0006593639,"domain_scores_codex":[0.9998589,0.00001205772,0.00002551217,0.00004976819,0.00003824289,0.00001553911],"domain_scores_gemma":[0.9998646,0.00003612542,0.00006092843,0.000006022201,0.00001321859,0.00001906843],"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":[0.0007348004,0.00008812144,0.1896221,0.001433449,0.0003132088,0.1035722,0.0004455621,0.001179789,0.6251137,0.001437428,0.001236362,0.07482323],"study_design_scores_gemma":[0.0002687227,0.0007157454,0.41384,0.0005376029,0.001497932,0.3224595,0.0006054361,0.00410575,0.21596,0.001996282,0.03792371,0.00008934868],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9801107,0.01279835,0.003975324,0.000387536,0.00003849635,0.00006651819,0.000947759,0.0001326776,0.001542578],"genre_scores_gemma":[0.974548,0.01184099,0.009570784,0.0001806685,0.00005634997,0.0000768891,0.002383343,0.00002874079,0.001314241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001622641,"threshold_uncertainty_score":0.004868984,"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."}}