{"id":"W2293796820","doi":"10.1016/j.jid.2016.02.801","title":"Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes","year":2016,"lang":"en","type":"letter","venue":"Journal of Investigative Dermatology","topic":"Hidradenitis Suppurativa and Treatments","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"Public Health Ontario; Women's College Hospital; University of Toronto","funders":"","keywords":"Nicastrin; Exome sequencing; Phenotype; Biology; Genetics; Gene; Multiplex; Whole genome sequencing; Exome; Computational biology; Genome; Medicine; Pathology; Presenilin; Alzheimer's disease; Disease","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":[0.000462544,0.0009730092,0.0006596709,0.0006909615,0.001240171,0.000965118,0.0008637292,0.006104534,0.003066578],"category_scores_gemma":[0.00403432,0.0003024556,0.0006128942,0.0003776664,0.0008927985,0.0009823607,0.000663821,0.003169795,0.0006630041],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009444719,"about_ca_system_score_gemma":0.000509019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002163442,"about_ca_topic_score_gemma":0.001776588,"domain_scores_codex":[0.9994966,0.00009011717,0.00007237949,0.000148473,0.000108921,0.00008356155],"domain_scores_gemma":[0.9986224,0.0007812656,0.0001487707,0.00006865414,0.0001238801,0.0002549028],"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":[0.0002091618,0.00005868301,0.01145239,0.00004057537,0.00003030726,0.9697493,0.0003100907,0.0001910035,0.00371446,0.0009928764,0.008157615,0.005093565],"study_design_scores_gemma":[0.00008978133,0.0001485623,0.01336964,0.00005846446,0.0000797489,0.9673281,0.0003412185,0.002398781,0.001999961,0.002231568,0.01192678,0.00002741175],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7216032,0.004125974,0.004332173,0.2261871,0.006431584,0.0001541348,0.0008989085,0.0003336633,0.0359333],"genre_scores_gemma":[0.9609757,0.001399909,0.002892179,0.01612234,0.007424796,0.00003335943,0.0001409983,0.00005335887,0.0109574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006104534,"threshold_uncertainty_score":0.01025867,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01890994017546859,"score_gpt":0.2534813234638069,"score_spread":0.2345713832883383,"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."}}