{"id":"W3102326923","doi":"10.1186/s12920-020-00821-x","title":"A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report","year":2020,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Innovation Cluster (Canada)","funders":"Ministry of Science and Higher Education of the Russian Federation; Russian Science Foundation","keywords":"Coloboma; Microphthalmia; Anophthalmia; Proband; Syndactyly; Genetics; Polydactyly; Double outlet right ventricle; Biology; Locus (genetics); Medicine; Pathology; Heart disease; Gene; Mutation","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":[0.0000868597,0.0001584158,0.000254815,0.00002770078,0.00003889398,0.00001776734,0.00008295656,0.00008565045,0.00001354269],"category_scores_gemma":[0.0001270481,0.0001202755,0.0000429158,0.00009072254,0.0002152013,0.000005354723,0.00009961276,0.00008627459,0.000001292274],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001324556,"about_ca_system_score_gemma":0.0004394965,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002209719,"about_ca_topic_score_gemma":0.0005866863,"domain_scores_codex":[0.9989253,0.00004504093,0.0003028186,0.0003708822,0.0001726743,0.0001832573],"domain_scores_gemma":[0.9992311,0.00003271343,0.0001039573,0.0002104659,0.00004800863,0.000373772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.04471447,0.003880545,0.4875434,0.002185742,0.001563247,0.2408209,0.004306041,0.0001539693,0.2058807,0.0005896379,0.0004508781,0.007910396],"study_design_scores_gemma":[0.05243212,0.05949159,0.2290605,0.0008239004,0.002604888,0.573093,0.01267255,0.008071854,0.04585435,0.0001615759,0.01037145,0.005362197],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997941,0.0006990147,0.0002223183,0.0005263283,0.00001713658,0.0004150804,0.00007349715,0.000008967943,0.00009668523],"genre_scores_gemma":[0.9986898,0.00002400855,0.0007094786,0.0002560127,0.00004372607,0.00005157127,0.0001374803,0.00002040392,0.00006755656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3322721,"threshold_uncertainty_score":0.4904693,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008568831249484763,"score_gpt":0.2157907227685481,"score_spread":0.2072218915190633,"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."}}