{"id":"W2887133962","doi":"10.1007/s11095-018-2481-7","title":"Doing it All - How Families are Reshaping Rare Disease Research","year":2018,"lang":"en","type":"article","venue":"Pharmaceutical Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Research Opportunities Initiative, University of North Carolina; Fondation des Fondateurs; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Pitt Hopkins Research Foundation; University of North Carolina; Rare Disease Foundation; Charcot-Marie-Tooth Association","keywords":"Odds; Disease; Liberian dollar; Rare disease; Face (sociological concept); Space (punctuation); Medicine; Courage; Psychology; Public relations; Political science; Sociology; Business; Law; Social science; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch","sts"],"consensus_categories":[],"category_scores_codex":[0.05542488,0.00125498,0.001862193,0.004185359,0.008050072,0.01217438,0.003171933,0.01407295,0.01871027],"category_scores_gemma":[0.1028123,0.0009317873,0.00193931,0.00192088,0.02459711,0.02727412,0.01388203,0.02397969,0.006780876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004580056,"about_ca_system_score_gemma":0.02137963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005214805,"about_ca_topic_score_gemma":0.006293966,"domain_scores_codex":[0.9678014,0.0188761,0.001604361,0.002775355,0.006331299,0.002611458],"domain_scores_gemma":[0.8681352,0.06319723,0.005812791,0.019083,0.01636524,0.02740653],"domain_codex":null,"domain_gemma":"incentives","domain_candidate":"incentives","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0002273645,0.0003869247,0.005155699,0.001041694,0.0004162376,0.001713241,0.007664419,0.0006947599,0.002325583,0.2013898,0.4084574,0.3705268],"study_design_scores_gemma":[0.000102188,0.0001506953,0.001401446,0.00135418,0.0001701316,0.001429947,0.004798681,0.0002130723,0.0009692045,0.3442263,0.6450778,0.0001064743],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.003622641,0.03680284,0.01546304,0.8996612,0.02122874,0.00006756526,0.0001554386,0.0007210723,0.02227757],"genre_scores_gemma":[0.1487406,0.06510818,0.05277901,0.6672828,0.03205472,0.0004305701,0.0003692476,0.001032502,0.03220233],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.9919499,"threshold_uncertainty_score":0.2931183,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2780007822860429,"score_gpt":0.5093746504667279,"score_spread":0.2313738681806851,"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."}}