{"id":"W2954775438","doi":"","title":"The Autism Speaks Mssng Whole Genome Sequencing Precision Medicine Resource","year":2019,"lang":"en","type":"article","venue":"INSAR 2019 Annual Meeting","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Autism; Precision medicine; Whole genome sequencing; Resource (disambiguation); Biology; Genomics; Computational biology; Genetics; Genome; Computer science; Medicine; Gene; Computer network","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":[0.0005675363,0.000160853,0.0001473656,0.00003448868,0.0002345503,0.00003860024,0.0003480043,0.0001161071,0.00002062537],"category_scores_gemma":[0.0001930478,0.0001096894,0.00007660786,0.00006943538,0.00008237686,0.000006148441,0.0002374125,0.0001197689,0.0001706304],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003288268,"about_ca_system_score_gemma":0.0000759567,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008839271,"about_ca_topic_score_gemma":0.00002155942,"domain_scores_codex":[0.9987727,0.00008417652,0.0002661903,0.0003553027,0.0001937037,0.0003278602],"domain_scores_gemma":[0.9991576,0.00006140879,0.0001334155,0.0004746831,0.00007692017,0.00009598121],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009257341,0.00001661715,0.001049559,0.00002397143,0.00005485467,0.00001109383,0.0007109861,0.0007302796,0.9826444,0.0001603329,0.009113827,0.00539144],"study_design_scores_gemma":[0.0005787918,0.0003025558,0.005139342,0.00011009,0.00002487335,0.00003358136,0.002486694,0.0001563134,0.005759199,0.0001851244,0.9849327,0.0002907236],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9786745,0.0063823,0.00005345731,0.0007238531,0.0003805145,0.0002431836,0.00006631859,0.00001893839,0.01345696],"genre_scores_gemma":[0.991548,0.0002237027,0.0001427499,0.0004079208,0.0005262092,0.000004898512,0.0001468173,0.00003540992,0.006964303],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9768853,"threshold_uncertainty_score":0.4473004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006881058070895339,"score_gpt":0.2334311604090292,"score_spread":0.2265501023381339,"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."}}