{"id":"W3179293288","doi":"10.1111/jth.15459","title":"GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis","year":2021,"lang":"en","type":"article","venue":"Journal of Thrombosis and Haemostasis","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Lawrence College; Queen's University","funders":"International Society on Thrombosis and Haemostasis; European Hematology Association","keywords":"Blood Platelet Disorders; Platelet disorder; Bioinformatics; Medicine; Genomics; Computational biology; Genetic variants; Hemostasis; Gene; Biology; Genetics; Platelet; Genome; Platelet aggregation; Internal medicine","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":[],"consensus_categories":[],"category_scores_codex":[0.0003836252,0.0002966473,0.0008850557,0.0001754215,0.0002488401,0.0001674365,0.000188705,0.0001806239,0.00003437054],"category_scores_gemma":[0.0001914977,0.0002274875,0.0001033006,0.0003231426,0.0001309915,0.0001939667,0.0001880002,0.0004200063,6.011551e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001386831,"about_ca_system_score_gemma":0.00008852001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005253275,"about_ca_topic_score_gemma":0.001630351,"domain_scores_codex":[0.9981878,0.0001295848,0.0007089137,0.0004009089,0.0002373617,0.0003354603],"domain_scores_gemma":[0.9983659,0.0006277853,0.0003530692,0.0004033995,0.0001033011,0.0001465229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001454202,0.002045197,0.8819097,0.0003162332,0.002463419,0.0002866494,0.01124725,0.00008054703,0.004755445,0.0002853498,0.002931358,0.09222464],"study_design_scores_gemma":[0.008823831,0.000508122,0.9790418,0.0009601256,0.0005451551,0.0001873545,0.004096674,0.001113974,0.0009928824,0.002358192,0.001105837,0.0002660732],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9824372,0.007405565,0.00006563202,0.009313893,0.00004803575,0.0004987562,0.0001266496,0.000008648606,0.0000956555],"genre_scores_gemma":[0.9598434,0.03485338,0.004562417,0.0005904754,0.00003827018,0.00001525449,0.00004803649,0.00004222498,0.000006547998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09713206,"threshold_uncertainty_score":0.9276671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0476949158862553,"score_gpt":0.3022606572073628,"score_spread":0.2545657413211075,"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."}}