{"id":"W3179188824","doi":"10.3389/fgene.2021.698595","title":"Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach","year":2021,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"London Health Sciences Centre","keywords":"DNA sequencing; Sequence (biology); Copy-number variation; Cancer; Genetics; Computational biology; Cohort; Biology; Medicine; Computer science; Gene; Genome; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001712024,0.0001760433,0.0005135126,0.0004317991,0.00003661146,0.00001999568,0.00006206003,0.0001539486,0.00004456625],"category_scores_gemma":[0.00004646386,0.0001776112,0.00004212635,0.001413675,0.0001161857,0.000039048,0.00002267554,0.0001730243,7.761038e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001602248,"about_ca_system_score_gemma":0.003448742,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1186642,"about_ca_topic_score_gemma":0.2184328,"domain_scores_codex":[0.9984643,0.0001189473,0.0003552011,0.0004251173,0.0002965606,0.0003398325],"domain_scores_gemma":[0.9992276,0.00001667516,0.00009758145,0.000279524,0.0001932274,0.0001854268],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.00003984143,0.00002749018,0.852998,0.00005818071,0.0002448868,0.00009610179,0.0005730751,0.1348186,0.0101347,0.000001647962,0.00002929876,0.0009780831],"study_design_scores_gemma":[0.0006083307,0.00008740398,0.2563464,0.0001174626,0.000623391,0.00003145114,0.000546821,0.7290811,0.01232281,0.000006178323,0.000029598,0.0001990472],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9888143,0.001008876,0.009224667,0.00003150043,0.0002351522,0.0004320572,0.00006692163,0.000005268274,0.0001812892],"genre_scores_gemma":[0.8733606,0.0002807172,0.1260078,0.0001832797,0.0000188662,0.00003962225,0.00007676925,0.00002111607,0.00001130631],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5966516,"threshold_uncertainty_score":0.8872047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05852799616524453,"score_gpt":0.2832994124989728,"score_spread":0.2247714163337283,"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."}}