{"id":"W2995500161","doi":"10.1038/s41588-019-0552-2","title":"A call for global action for rare diseases in Africa","year":2019,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":66,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Angela Wright Bennett Foundation; AveXis; Karolinska Institutet; African Union; Cambridge University Hospitals; Government of Western Australia; National Human Genome Research Institute; Amsterdam University Medical Centers; North-West University; McCusker Charitable Foundation; Curtin University of Technology; James Cook University; Universiteit van Amsterdam; National Institutes of Health; Common Fund; Istituto Superiore di Sanità; Keio University; University of Cambridge; African Union Commission; National Center for Advancing Translational Sciences; Medical Research Council; Pfizer; Universitat Pompeu Fabra; ACT Government","keywords":"Call to action; Orphan drug; Rare disease; Stakeholder; Global health; Public health; Action (physics); International Action; Stakeholder engagement; Economic growth; Biology; Public relations; Political science; Medicine; Business; Bioinformatics; Disease; Pathology","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":[0.02278456,0.002225932,0.002179999,0.001759092,0.003458805,0.005799972,0.003087686,0.02656958,0.04484423],"category_scores_gemma":[0.02522711,0.0007075099,0.002772758,0.001109577,0.00741882,0.01047834,0.01514234,0.02612122,0.006761436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004233256,"about_ca_system_score_gemma":0.03581588,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006735167,"about_ca_topic_score_gemma":0.006529703,"domain_scores_codex":[0.9913318,0.002420586,0.0004352759,0.0007768335,0.001491027,0.003544467],"domain_scores_gemma":[0.9434354,0.01502286,0.002340622,0.002446159,0.00615066,0.03060423],"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":[0.0004373652,0.0002777081,0.001992531,0.002076013,0.000171806,0.001469894,0.001025168,0.0005282292,0.003955317,0.04017299,0.8534389,0.09445402],"study_design_scores_gemma":[0.0002263158,0.0001905797,0.003955632,0.001469483,0.0001093124,0.0006809118,0.001722618,0.0001839811,0.0005306047,0.02228912,0.9685572,0.00008441775],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.001294789,0.01832842,0.002386795,0.9315975,0.03926567,0.00004259684,0.00028127,0.000223387,0.006579526],"genre_scores_gemma":[0.04087802,0.03107755,0.01153476,0.855533,0.03123399,0.0003005172,0.0006479205,0.000242995,0.02855122],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.04484423,"threshold_uncertainty_score":0.1500189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008076999353402406,"score_gpt":0.269643674567063,"score_spread":0.2615666752136606,"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."}}