{"id":"W2927574259","doi":"10.3390/genes10040275","title":"Uncovering Missing Heritability in Rare Diseases","year":2019,"lang":"en","type":"review","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; Genome British Columbia; Genome Canada","keywords":"Missing heritability problem; Heritability; Genome-wide association study; Biology; Genetic association; DNA sequencing; Trait; Genetics; Genomics; Whole genome sequencing; Disease; Computational biology; Genome; Medicine; Genetic variants; Genotype; Gene; Single-nucleotide polymorphism; Computer science; Pathology","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":[0.001762819,0.0009045463,0.001906869,0.002955019,0.0002970174,0.001401177,0.001254083,0.001810869,0.003518508],"category_scores_gemma":[0.003185684,0.0003422812,0.0009229378,0.001982262,0.0008376261,0.001754592,0.001017379,0.0022149,0.001972646],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009757032,"about_ca_system_score_gemma":0.001867809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001352735,"about_ca_topic_score_gemma":0.001699192,"domain_scores_codex":[0.9994189,0.0001319779,0.00008612611,0.0001089524,0.0002099981,0.00004401291],"domain_scores_gemma":[0.9974456,0.001954646,0.0001564513,0.00005435173,0.0003114772,0.000077479],"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":[0.00005677855,0.00002958273,0.0003939232,0.01747958,0.0001926424,0.0004017951,0.00006479702,0.0004319709,0.001034836,0.007764557,0.0273276,0.9448219],"study_design_scores_gemma":[0.00001703236,0.00006704248,0.001431648,0.008837784,0.000316244,0.002680097,0.00009054736,0.0002516174,0.0007929462,0.01164157,0.9738322,0.00004138403],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009806536,0.9972214,0.0006501003,0.000854557,0.0002765463,0.000004467087,0.00004259828,0.00002373365,0.0008285285],"genre_scores_gemma":[0.0006591548,0.997916,0.0004340035,0.0004022445,0.0002366038,0.000005612893,0.00005821191,0.00000383086,0.0002842158],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003518508,"threshold_uncertainty_score":0.01177061,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02800501540489821,"score_gpt":0.3030129643049403,"score_spread":0.2750079489000421,"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."}}