{"id":"W2061169804","doi":"10.1038/ng.822","title":"Mutations in CEP57 cause mosaic variegated aneuploidy syndrome","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":169,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Mount Sinai Hospital","funders":"National Institute for Health and Care Research; Cancer Research UK","keywords":"Biology; Aneuploidy; Genetics; Mutation; Loss function; Function (biology); Mosaic; Kinetochore; Exome sequencing; Computational biology; Chromosome; Phenotype; Gene","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":[0.0001511968,0.001098502,0.0005299688,0.001198958,0.0004485084,0.0003998857,0.0007435349,0.001276236,0.003551905],"category_scores_gemma":[0.0009710348,0.0003920833,0.0003787594,0.0006718528,0.0008084453,0.0003277733,0.0009277575,0.000693542,0.0005910064],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004703653,"about_ca_system_score_gemma":0.0003588923,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001663318,"about_ca_topic_score_gemma":0.00208753,"domain_scores_codex":[0.9997696,0.00002089679,0.00003552499,0.00004816093,0.00009160333,0.00003411879],"domain_scores_gemma":[0.9992612,0.0002604336,0.000200633,0.00006514791,0.00003535558,0.0001772207],"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":[0.000813195,0.0001189473,0.01537361,0.0001135098,0.0002350798,0.2254984,0.000307589,0.00185138,0.7347429,0.004628418,0.001321316,0.01499566],"study_design_scores_gemma":[0.0004613847,0.000344901,0.1172678,0.00008966923,0.0004895864,0.4518431,0.0005196544,0.01024081,0.4001842,0.004898431,0.01351002,0.0001505915],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921309,0.0006619875,0.002988491,0.0002661171,0.0001548836,0.00001667643,0.0004403706,0.0001606224,0.003179841],"genre_scores_gemma":[0.9973053,0.0002723568,0.001079698,0.00004341971,0.00003295381,0.000008374425,0.0001320891,0.00005613844,0.001069584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003551905,"threshold_uncertainty_score":0.01188231,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009799501253133681,"score_gpt":0.2387869027572279,"score_spread":0.2289874015040942,"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."}}