{"id":"W2577500614","doi":"","title":"Whole exome sequencing identifies new candidate genes for Pigment Dispersion Syndrome","year":2016,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Exome sequencing; Exome; Computational biology; Gene; Genetics; Candidate gene; Biology; 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":[0.0002739125,0.001050066,0.0006349104,0.001717506,0.0005122731,0.0008520514,0.0004764925,0.001180711,0.003362821],"category_scores_gemma":[0.0009691714,0.0002276069,0.0008290515,0.0008916793,0.0003595343,0.0003344686,0.0004748557,0.0005158323,0.0003873293],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002784013,"about_ca_system_score_gemma":0.0002369812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001170747,"about_ca_topic_score_gemma":0.001787164,"domain_scores_codex":[0.9997596,0.00002502268,0.00003372758,0.00007379825,0.00007590378,0.00003197209],"domain_scores_gemma":[0.9995663,0.0002348905,0.00008143389,0.00002548753,0.00003134679,0.00006066631],"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":[0.002714848,0.0003478938,0.2761886,0.000278725,0.0008879392,0.07870549,0.0008817734,0.002327061,0.5774574,0.001731882,0.002169914,0.05630844],"study_design_scores_gemma":[0.0003714863,0.0005077241,0.788749,0.0001389466,0.001406996,0.07421654,0.0007095443,0.01029478,0.1094157,0.002915563,0.01117245,0.0001013486],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955791,0.0006373926,0.001604487,0.0002536695,0.00003118331,0.00002010015,0.001091377,0.00004637623,0.0007362788],"genre_scores_gemma":[0.9947693,0.000477926,0.002418029,0.0001305037,0.00003298281,0.00001773566,0.0009962087,0.00002812036,0.001129341],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003362821,"threshold_uncertainty_score":0.01124978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03708718821932239,"score_gpt":0.328347163364956,"score_spread":0.2912599751456336,"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."}}