{"id":"W4308074043","doi":"10.1016/j.ajhg.2022.10.002","title":"Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery","year":2022,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Alberta Children's Hospital; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; Genome Canada","keywords":"Exome sequencing; Data sharing; Exome; Leverage (statistics); Data science; Genome; Disease; Computational biology; Biology; Medicine; Gene; Genetics; Computer science; Alternative medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002946135,0.0003240889,0.001124608,0.00007696804,0.000330097,0.0000492498,0.001582495,0.00003369992,0.00001395532],"category_scores_gemma":[0.0001166316,0.0002160695,0.0007020324,0.0002295659,0.0005791828,0.000003872276,0.0004337801,0.0001905784,9.383187e-8],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001266288,"about_ca_system_score_gemma":0.005819349,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002105429,"about_ca_topic_score_gemma":0.002449704,"domain_scores_codex":[0.9979578,0.0001564915,0.0007627608,0.0003193187,0.0004511384,0.0003525084],"domain_scores_gemma":[0.9969081,0.0001201351,0.00183197,0.0007065748,0.0001934212,0.0002397877],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007553517,0.0004152238,0.003654629,0.002715291,0.004735629,0.0002979305,0.0002748583,0.005548411,0.001727557,0.0001069237,0.0160697,0.9636985],"study_design_scores_gemma":[0.0003311256,0.0008384233,0.002391299,0.0004837166,0.002251874,0.00005130653,0.0003583074,0.000003909894,0.0001276632,0.0001535963,0.9924827,0.0005261053],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1096366,0.8878818,0.00007055316,0.00002864014,0.0003371871,0.0003058408,0.001730175,0.000001150816,0.000008066182],"genre_scores_gemma":[0.04530067,0.952948,0.0003747373,0.0002000902,0.0007320544,0.00002600511,0.0003059147,0.00005605584,0.00005647133],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.976413,"threshold_uncertainty_score":0.9998167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02754540138699885,"score_gpt":0.3066848362289532,"score_spread":0.2791394348419543,"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."}}