{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001581151,0.001163206,0.0007318279,0.001875185,0.001270231,0.0008189947,0.0008914932,0.001939195,0.001740753],"category_scores_gemma":[0.001081331,0.0009144285,0.0006874914,0.001055474,0.001129503,0.0006622949,0.001069867,0.001010548,0.0003939545],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007440807,"about_ca_system_score_gemma":0.0004612843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002476569,"about_ca_topic_score_gemma":0.002751501,"domain_scores_codex":[0.999616,0.00002830678,0.00004283047,0.0001638752,0.00006088796,0.00008812111],"domain_scores_gemma":[0.9992042,0.0002054418,0.0002121343,0.00005858029,0.00003832472,0.0002812793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00002678664,0.00001363015,0.006518026,0.00001815685,0.00001125874,0.9897377,0.0002107358,0.00005123582,0.002497077,0.00006455816,0.00007925719,0.0007714732],"study_design_scores_gemma":[0.000008011933,0.00004378493,0.008955304,0.000004854661,0.00002017095,0.989718,0.00008808089,0.0001384994,0.0007278239,0.0000645229,0.0002217714,0.00000922327],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961712,0.0008967006,0.0008706941,0.0002712037,0.00003913395,0.00003417757,0.0001595678,0.00005643308,0.001500793],"genre_scores_gemma":[0.9984396,0.0003209065,0.000567812,0.00007394102,0.00007384834,0.000007724364,0.00007525599,0.00001183015,0.0004290448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002476569,"threshold_uncertainty_score":0.005823374,"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."}}