{"id":"W2601713446","doi":"10.1167/iovs.16-20864","title":"Novel 25 kb Deletion of <i>MERTK</i> Causes Retinitis Pigmentosa With Severe Progression","year":2017,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; SickKids Foundation; University of Toronto; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; Memorial University of Newfoundland","funders":"Canadian Institutes of Health Research; McGill University","keywords":"Genetics; Exome sequencing; Exome; Biology; Retinitis pigmentosa; Candidate gene; ABCA4; Sanger sequencing; Breakpoint; Genetic linkage; Copy-number variation; Locus (genetics); Gene; Mutation; Chromosome; Phenotype; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0003803544,0.0001885876,0.0001801072,0.00006340678,0.0005844178,0.0000596174,0.0005621486,0.0001148768,0.00002162595],"category_scores_gemma":[0.0004972536,0.0001484576,0.00003631888,0.0001606518,0.004955218,0.00003985886,0.0003183837,0.00009392134,0.000005719926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001742977,"about_ca_system_score_gemma":0.0004157604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009136712,"about_ca_topic_score_gemma":0.00001393801,"domain_scores_codex":[0.998509,0.00004927066,0.0002098014,0.000543972,0.0003417419,0.0003462194],"domain_scores_gemma":[0.9988187,0.00001611701,0.0003725871,0.0003512339,0.0002870978,0.0001542561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008169698,0.00007361957,0.1718742,0.00001277968,0.00001391936,0.0000148405,0.0001033465,0.000002755274,0.8272563,0.00006644579,0.00004586997,0.0004542737],"study_design_scores_gemma":[0.0004675954,0.00107617,0.240372,0.0000865008,0.00001013083,0.0002251754,0.0001204922,0.00001481125,0.7569944,0.0002583565,0.0001694359,0.0002048955],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921277,0.00006493639,0.00004396038,0.0002749141,0.0001069294,0.0002325971,0.000008377468,0.000007745914,0.007132834],"genre_scores_gemma":[0.9957189,0.00001845822,0.003819999,0.00009654828,0.0000318978,0.00003097905,0.00002725906,0.00001182425,0.00024415],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07026185,"threshold_uncertainty_score":0.9977527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03024481038271673,"score_gpt":0.3339163452588891,"score_spread":0.3036715348761724,"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."}}