{"id":"W3124935222","doi":"10.1038/s41380-020-01006-9","title":"Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder","year":2021,"lang":"en","type":"review","venue":"Molecular Psychiatry","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"National Institute on Aging; National Centre for the Replacement, Refinement and Reduction of Animals in Research; Dalio Foundation; Kaiser Permanente; National Institute of Mental Health; Medical Research Council; Wayne and Gladys Valley Foundation; Robert Wood Johnson Foundation; National Cancer Institute; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Bipolar disorder; Genome-wide association study; Exome sequencing; Heritability; Genetics; Gene; Biology; Exome; Genetic association; Single-nucleotide polymorphism; Phenotype; Missing heritability problem; Genetic variation; Candidate gene; Genotype; Endocrinology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002984711,0.0007237204,0.001091286,0.0002251486,0.0001246558,0.00009926792,0.0005638105,0.0007045637,0.00004101161],"category_scores_gemma":[0.0001566069,0.0007334313,0.001131043,0.0005600444,0.00005968185,0.000005672141,0.0003566955,0.000463872,0.00003201209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006135108,"about_ca_system_score_gemma":0.001793355,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002927733,"about_ca_topic_score_gemma":0.00010514,"domain_scores_codex":[0.9964245,0.0005459039,0.0009191074,0.001255276,0.0002704988,0.0005847055],"domain_scores_gemma":[0.9980705,0.00001545295,0.0004589938,0.001140495,0.00009262424,0.0002219381],"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":[0.00001903533,0.001233314,0.002462434,0.01845436,0.001764648,0.000648686,0.0001330477,0.000239614,0.02023593,0.002111049,0.001833704,0.9508642],"study_design_scores_gemma":[0.0005407272,0.00009311402,0.0003505199,0.002979423,0.000665175,0.0002081407,0.00003617613,0.00001266061,0.00002306402,0.0002032048,0.9937761,0.001111713],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00796737,0.9895699,0.0003975188,0.00004715841,0.0009064218,0.0007233797,0.0002844958,0.0000239352,0.00007983734],"genre_scores_gemma":[0.0006063562,0.9921684,0.002421712,0.0003770997,0.0003885006,0.0002293692,0.003506204,0.0002057235,0.0000965936],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9919424,"threshold_uncertainty_score":0.9995117,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01159165860646068,"score_gpt":0.2671713246105446,"score_spread":0.2555796660040839,"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."}}