{"id":"W3167809720","doi":"10.7554/elife.67622.sa2","title":"Author response: Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations","year":2021,"lang":"en","type":"peer-review","venue":"","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Columbia College","funders":"","keywords":"Mutation; Biology; Genetics; Gene; Loss function; Gene knockdown; Phenotype; Mutant","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":[0.002211908,0.0009051705,0.0006914334,0.0007022055,0.0008218071,0.001215535,0.001197928,0.003135351,0.2185484],"category_scores_gemma":[0.005380845,0.000501449,0.0008534222,0.0005419703,0.0005107239,0.001064625,0.001481375,0.001863269,0.1169548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009859932,"about_ca_system_score_gemma":0.001116888,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006297667,"about_ca_topic_score_gemma":0.001453596,"domain_scores_codex":[0.9978369,0.0003740826,0.0002207574,0.0004397087,0.0008651223,0.0002633828],"domain_scores_gemma":[0.9968904,0.0009156248,0.0002303502,0.0003591261,0.001162814,0.0004417489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009967645,0.00009506581,0.001193907,0.0007610522,0.00002867309,0.0006279208,0.0001900723,0.0003867348,0.03568932,0.003173769,0.9013606,0.05549609],"study_design_scores_gemma":[0.0001685258,0.000176765,0.00134764,0.0001523528,0.00002300793,0.0006375856,0.0002812608,0.0007219891,0.05309974,0.001758887,0.9415662,0.00006612997],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"commentary","genre_scores_codex":[0.05221242,0.008616489,0.09133719,0.1467229,0.1812778,0.003637707,0.08992101,0.03606886,0.3902056],"genre_scores_gemma":[0.1474672,0.005924191,0.05189749,0.04019204,0.006435235,0.002503118,0.03939251,0.008344456,0.6978437],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.2185484,"threshold_uncertainty_score":0.7311174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04213533183717535,"score_gpt":0.3520309936041564,"score_spread":0.3098956617669811,"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."}}