{"id":"W925149408","doi":"","title":"Clinical Diagnosis by Targeted Sequencing Using Personal Genome Machine","year":2012,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Genetics, Bioinformatics, and Biomedical Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Personal genomics; Computational biology; DNA sequencing; Medicine; Genome; Whole genome sequencing; Biology; Genetics; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006880875,0.0007301794,0.0007334551,0.002986196,0.0003630639,0.0006099882,0.0004734741,0.0008348277,0.003443416],"category_scores_gemma":[0.001893,0.000256613,0.0006842646,0.00102603,0.0001985509,0.0003669784,0.0006286171,0.0005552504,0.001631368],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002689858,"about_ca_system_score_gemma":0.0004669324,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001299727,"about_ca_topic_score_gemma":0.001384569,"domain_scores_codex":[0.9993942,0.0001163173,0.00007937253,0.0002533312,0.0001069738,0.00004981599],"domain_scores_gemma":[0.9990087,0.0004183341,0.0001009211,0.0001335804,0.0002579111,0.0000806109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001866553,0.0003476864,0.3496169,0.0004618905,0.0005030399,0.005372015,0.0003485526,0.007202124,0.1966205,0.001460719,0.01895183,0.4172482],"study_design_scores_gemma":[0.0003175889,0.0008677642,0.3245264,0.0002432408,0.001112415,0.02551753,0.0005699947,0.3916499,0.2083352,0.01438602,0.03228827,0.0001857937],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5497698,0.003689985,0.4060567,0.002036165,0.0003579544,0.0008361839,0.01911327,0.007032281,0.01110767],"genre_scores_gemma":[0.792738,0.00098946,0.1935923,0.0009286831,0.0002719669,0.0004739777,0.008228591,0.000213467,0.002563589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003443416,"threshold_uncertainty_score":0.01151937,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08439119259947551,"score_gpt":0.3971509391620375,"score_spread":0.312759746562562,"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."}}