{"id":"W2961563808","doi":"10.1016/j.ajhg.2019.06.011","title":"Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":66,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Amschwand Sarcoma Cancer Foundation; National Institutes of Health; Gillson Longenbaugh Foundation; American Society of Clinical Oncology; Doris Duke Charitable Foundation","keywords":"Anaphase; Genetics; Protein subunit; Scaffold; Biology; Computer science; Chromosome; Gene; Programming language","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":[0.000173009,0.00281182,0.0005940062,0.002152193,0.0008833388,0.0005677749,0.0007513443,0.00171086,0.002355582],"category_scores_gemma":[0.001441979,0.0004697897,0.0005298001,0.001008167,0.001205284,0.0004065609,0.0006538928,0.001028665,0.0005863137],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009709945,"about_ca_system_score_gemma":0.0005416622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003601041,"about_ca_topic_score_gemma":0.003823898,"domain_scores_codex":[0.9996685,0.0000334784,0.00003985122,0.00009076997,0.00012767,0.00003978909],"domain_scores_gemma":[0.9989864,0.0003673479,0.0003882616,0.00003213676,0.00003354345,0.0001922662],"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":[0.001127919,0.0002162511,0.02590694,0.0003208564,0.0003228243,0.261267,0.0009220778,0.002909081,0.6843593,0.00404624,0.003050584,0.01555098],"study_design_scores_gemma":[0.0003804881,0.0004493305,0.1649812,0.0001776429,0.0008135918,0.5279502,0.0005442129,0.0106524,0.2769834,0.002352997,0.0145192,0.0001953852],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906433,0.001307097,0.002804327,0.000470167,0.0001771648,0.00005383948,0.0008685407,0.0003904816,0.003285149],"genre_scores_gemma":[0.9962887,0.0003566639,0.001706184,0.00006079703,0.00005844435,0.00001615922,0.0002804745,0.00006171505,0.00117089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003601041,"threshold_uncertainty_score":0.007880211,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01983989224548021,"score_gpt":0.2810814313425793,"score_spread":0.2612415390970991,"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."}}