{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001091771,0.0008878544,0.0003948377,0.0005192499,0.000711085,0.0003259821,0.0005558398,0.0006993209,0.002000588],"category_scores_gemma":[0.0003019304,0.0002469803,0.0004425204,0.0003510985,0.0005375168,0.0001303494,0.0003757755,0.0005124049,0.0005976625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006956812,"about_ca_system_score_gemma":0.0003638045,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007980146,"about_ca_topic_score_gemma":0.01428876,"domain_scores_codex":[0.9998187,0.000009903718,0.00001526717,0.00006560635,0.00005195193,0.00003850694],"domain_scores_gemma":[0.9997885,0.00003981489,0.00009139092,0.00001627551,0.00001601846,0.0000481212],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0009648381,0.0002349605,0.08483918,0.0003702603,0.0002210333,0.3921059,0.0008589192,0.001169835,0.4987833,0.0005864245,0.003350062,0.01651529],"study_design_scores_gemma":[0.0002018464,0.0004710742,0.4814365,0.0001303392,0.0003551835,0.4647537,0.00029778,0.001557081,0.04065342,0.000317737,0.009762774,0.00006254515],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946404,0.0005653939,0.001122091,0.0001808027,0.00002710056,0.00005471573,0.001001033,0.0002046234,0.00220389],"genre_scores_gemma":[0.9971929,0.0001280123,0.001076497,0.0001139506,0.00002433897,0.0000130966,0.0006280988,0.00003080974,0.000792356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007980146,"threshold_uncertainty_score":0.01586735,"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."}}