{"id":"W2518845767","doi":"10.1186/s12920-016-0220-7","title":"Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells","year":2016,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université du Québec à Chicoutimi; McGill University and Génome Québec Innovation Centre","funders":"Medical Research Council; National Institute for Health and Care Research; Canadian Institutes of Health Research; Forskningsrådet om Hälsa, Arbetsliv och Välfärd; Knut och Alice Wallenbergs Stiftelse; Vetenskapsrådet","keywords":"Biology; Human genetics; Computational biology; Genome-wide association study; Genetics; Gene; Transcriptome; Exome sequencing; DNA microarray; Genomics; Exome; Human genome; Genome; Allele; Genetic association; Phenotype; Gene expression; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003569127,0.00009379638,0.0001480565,0.0000266695,0.00005662258,0.000004265182,0.0001939144,0.0001528908,0.00001885766],"category_scores_gemma":[0.0002250224,0.00006017715,0.00006942711,0.00005043456,0.0002669692,0.000004897667,0.0001054629,0.00006555596,8.288716e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003647376,"about_ca_system_score_gemma":0.0004440383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008507714,"about_ca_topic_score_gemma":0.00009130169,"domain_scores_codex":[0.998982,0.00008995285,0.0004379484,0.000215328,0.0001509676,0.0001238299],"domain_scores_gemma":[0.9992196,0.00006451149,0.0002503461,0.0003361185,0.00008251604,0.0000468931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008201269,0.00003905788,0.0002156538,0.00002838806,0.00004119528,0.000001430805,0.000211111,0.00003415482,0.997909,0.001043863,0.00008196983,0.0003121314],"study_design_scores_gemma":[0.001345744,0.0001131762,0.09136801,0.0001233053,0.00005735138,0.00002663569,0.001160119,0.00008615623,0.9016851,0.002692043,0.001132243,0.0002100868],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949449,0.001703164,0.002804924,0.000125421,0.0001197333,0.0001564838,0.00007381732,0.000002457043,0.00006911269],"genre_scores_gemma":[0.9984759,0.0009287702,0.0002323051,0.00005030429,0.00006062479,0.000008695829,0.00005332742,0.00001246224,0.0001775714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09622391,"threshold_uncertainty_score":0.2453953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01113948981729969,"score_gpt":0.2324753274125457,"score_spread":0.221335837595246,"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."}}