{"id":"W4233456286","doi":"10.1016/j.jid.2016.02.417","title":"384 Whole genome linkage analysis followed by whole exome sequencing identifies nicastrin ( NCSTN ) as a causative gene in a multiplex family with γ-secretase associated autoinflammatory skin phenotypes","year":2016,"lang":"en","type":"article","venue":"Journal of Investigative Dermatology","topic":"Hidradenitis Suppurativa and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Nicastrin; Exome sequencing; Genetics; Biology; Genodermatosis; Gene; Exome; Exon; Phenotype; Presenilin; Medicine; Pathology","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":[0.0002253433,0.001361724,0.0004609692,0.001685204,0.001019986,0.0007261003,0.0006804905,0.001169452,0.007107975],"category_scores_gemma":[0.0009782158,0.0003125645,0.0008010077,0.0008209739,0.0006625575,0.0003101752,0.0007759343,0.0005610438,0.0006393699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004637115,"about_ca_system_score_gemma":0.0003663694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003746778,"about_ca_topic_score_gemma":0.003203059,"domain_scores_codex":[0.9996049,0.00004451585,0.0000451936,0.0001405379,0.0001123131,0.00005257805],"domain_scores_gemma":[0.9996105,0.0001555502,0.0001043643,0.0000234749,0.00002835483,0.0000777773],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001502131,0.0003666996,0.1235282,0.0001233323,0.0003575399,0.5579148,0.00177038,0.00127803,0.2895416,0.001583572,0.001839478,0.02019427],"study_design_scores_gemma":[0.0002162083,0.0003955971,0.3209513,0.0001250182,0.0009095258,0.6033552,0.001016563,0.006483595,0.05522885,0.001315472,0.009914211,0.00008846233],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947524,0.0002531137,0.001284684,0.0003521559,0.00003466506,0.00002561717,0.000755631,0.00005679333,0.002484969],"genre_scores_gemma":[0.9959346,0.0001788331,0.001617316,0.0001203909,0.0000486529,0.00001082229,0.000386672,0.00002519981,0.001677515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007107975,"threshold_uncertainty_score":0.02377856,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01944980321727147,"score_gpt":0.2577040043575653,"score_spread":0.2382542011402938,"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."}}