{"id":"W2340003135","doi":"10.1007/978-3-319-17121-0_26","title":"Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)","year":2015,"lang":"en","type":"article","venue":"Advances in experimental medicine and biology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"National Eye Institute; National Human Genome Research Institute; National Institutes of Health","keywords":"Genetics; Biology; Haplotype; Missense mutation; Genetic linkage; Retinitis pigmentosa; Population; Mutation; Gene; Allele; Medicine","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":[0.0002030553,0.001221246,0.0008329775,0.001504027,0.0005456749,0.0007964388,0.001101956,0.002201156,0.003462584],"category_scores_gemma":[0.0008454653,0.0004809439,0.0009582311,0.0008346261,0.0008253523,0.0002445525,0.0006193849,0.001220459,0.001192403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004392438,"about_ca_system_score_gemma":0.0005175077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001376205,"about_ca_topic_score_gemma":0.001256283,"domain_scores_codex":[0.9996781,0.00003050416,0.00003296371,0.0001246402,0.00006636466,0.00006729954],"domain_scores_gemma":[0.9994534,0.0001786145,0.0001559027,0.00003775321,0.0000468638,0.0001274421],"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":[0.0008049675,0.0003448442,0.02107829,0.0004213484,0.0001597125,0.4061637,0.0005610556,0.000514652,0.5473644,0.001623708,0.001659472,0.01930405],"study_design_scores_gemma":[0.000650366,0.001143049,0.1642861,0.0001997179,0.0008386567,0.6773174,0.0007917013,0.00417841,0.1241228,0.001891815,0.02443868,0.0001412593],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877958,0.001962638,0.004746366,0.00110627,0.000363611,0.00008237032,0.0009189447,0.0002958261,0.002728183],"genre_scores_gemma":[0.9864834,0.001029258,0.00726019,0.000449684,0.0002317523,0.0000785759,0.001420644,0.00005472455,0.002991657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003462584,"threshold_uncertainty_score":0.01158351,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03266357824032818,"score_gpt":0.3490100523081879,"score_spread":0.3163464740678597,"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."}}