{"id":"W2794451205","doi":"10.1101/288852","title":"Biallelic Mutations in <i>LRRC56</i> encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; McGill University; Génome Québec; Canadian Institutes of Health Research; University of Leeds; Genome Canada; Ontario Genomics; Medical Research Council; Ontario Genomics Institute","keywords":"Intraflagellar transport; Cilium; Axoneme; Primary ciliary dyskinesia; Mucociliary clearance; Dynein; Motile cilium; Biology; Flagellum; Ciliogenesis; Cell biology; Video microscopy; Genetics; Microtubule; Gene; Medicine; Lung; Internal medicine; Bronchiectasis","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001513512,0.00147714,0.0003291238,0.0006472227,0.0004416693,0.0002995235,0.0003927228,0.001029766,0.004371818],"category_scores_gemma":[0.0002990655,0.0002926105,0.0004373336,0.0003770086,0.0007099538,0.0001476141,0.0006113779,0.0006038377,0.001035043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001847275,"about_ca_system_score_gemma":0.0001298666,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009538343,"about_ca_topic_score_gemma":0.000899479,"domain_scores_codex":[0.9996588,0.00004484132,0.00005217513,0.000105855,0.00008361889,0.00005460892],"domain_scores_gemma":[0.9996263,0.00006445841,0.0001440294,0.00002294546,0.00002132138,0.0001209452],"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":[0.0006449293,0.0001243823,0.01245042,0.0001213937,0.0001390721,0.05053178,0.0002284205,0.0001480423,0.9305766,0.000435304,0.0006858588,0.003913718],"study_design_scores_gemma":[0.0002597062,0.001082738,0.2733435,0.0001254116,0.000429368,0.4650641,0.000523026,0.003071673,0.2415613,0.0005741955,0.01387271,0.00009225628],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931987,0.0008059276,0.002516957,0.0001880709,0.00008454462,0.00005789481,0.0008184625,0.0001549371,0.002174532],"genre_scores_gemma":[0.99757,0.0001515907,0.0006562997,0.00008227279,0.00003596879,0.00001645101,0.000302199,0.00003959946,0.001145709],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004371818,"threshold_uncertainty_score":0.01462519,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00945009186057586,"score_gpt":0.2074980483907319,"score_spread":0.1980479565301561,"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."}}