{"id":"W3170709234","doi":"10.21203/rs.3.rs-530835/v1","title":"Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene","year":2021,"lang":"en","type":"preprint","venue":"Research Square","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Western University; McGill University; Memorial University of Newfoundland","funders":"Tel Aviv University; Children's Hospital Foundation; Genome Canada","keywords":"Flippase; Gene; Hearing loss; Genetics; splice; RNA splicing; Biology; Phospholipid; Medicine; Phosphatidylserine; Audiology; Membrane","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":[0.00009364744,0.0007426954,0.0002569496,0.0007771982,0.0004969825,0.0002658161,0.0002856966,0.0003452483,0.00612485],"category_scores_gemma":[0.0002249963,0.0001707117,0.0003626502,0.0004610738,0.0004164739,0.00009137054,0.0003399075,0.0004085398,0.0003941698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004674762,"about_ca_system_score_gemma":0.0004498104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01756845,"about_ca_topic_score_gemma":0.03562829,"domain_scores_codex":[0.9998544,0.00001147889,0.00001163864,0.0000509253,0.0000376795,0.00003380929],"domain_scores_gemma":[0.9998674,0.00002856511,0.00005100378,0.000006532457,0.00001753474,0.0000289037],"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":[0.0006363449,0.0001819904,0.2543347,0.0002215162,0.0003557098,0.1135608,0.0008575636,0.0005994563,0.5879821,0.001239993,0.002335909,0.03769378],"study_design_scores_gemma":[0.0001064779,0.0002298943,0.8213075,0.00009842163,0.0002533934,0.1429226,0.0005028844,0.001220215,0.02541344,0.0004005159,0.007515718,0.0000290003],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962339,0.0003297357,0.001379731,0.0001462683,0.00001598722,0.00002626543,0.0006595076,0.00004603707,0.001162546],"genre_scores_gemma":[0.9973265,0.0001219722,0.0006843426,0.00004053312,0.000007248811,0.00001118406,0.0004175966,0.000007606787,0.001382976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01756845,"threshold_uncertainty_score":0.03493237,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06534728205574283,"score_gpt":0.3667023079694972,"score_spread":0.3013550259137544,"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."}}