{"id":"W4306932083","doi":"10.1016/j.xhgg.2022.100156","title":"High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; University of Alberta Hospital; Alberta Hospital Edmonton; St. Michael's Hospital; Queen Elizabeth II Health Sciences Centre; St. Paul's Hospital; Alberta Children's Hospital; Izaak Walton Killam Health Centre; London Health Sciences Centre; Hospital for Sick Children; Université de Montréal; University of Calgary; BC Children's Hospital; Centre Hospitalier de l’Université de Montréal; Memorial University of Newfoundland; SickKids Foundation; Kingston Health Sciences Centre","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Human Genome Research Institute; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Hospital for Sick Children; National Institutes of Health; Government of Canada; Cystic Fibrosis Foundation; Government of Ontario; Natural Sciences and Engineering Research Council of Canada; Cystic Fibrosis Canada; Canadian Institutes of Health Research; Genome Canada","keywords":"Meconium Ileus; Haplotype; Genetics; Allele; Cystic fibrosis; Locus (genetics); Biology; Missense mutation; Exome sequencing; Bioinformatics; Gene; Meconium; Mutation; Pregnancy; Fetus","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":[0.0003491326,0.0001561124,0.0003850601,0.0001930215,0.0002811911,0.00001924471,0.000143501,0.00002561678,0.000074185],"category_scores_gemma":[0.00008594846,0.0001570541,0.00007744927,0.0001976816,0.0003381774,0.00005369803,0.000119286,0.000123772,3.643103e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002331441,"about_ca_system_score_gemma":0.0001831768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003967053,"about_ca_topic_score_gemma":0.00001191996,"domain_scores_codex":[0.998246,0.00006604075,0.0006186627,0.0003122101,0.0005161799,0.0002409074],"domain_scores_gemma":[0.9987736,0.0001719375,0.0003695899,0.0003969538,0.0001107312,0.0001772284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002768278,0.0006036966,0.1482166,0.003102502,0.0001926773,0.00001108059,0.0006648451,0.1505938,0.6639842,0.01069848,0.00002905919,0.01913473],"study_design_scores_gemma":[0.005843856,0.003584543,0.8550274,0.0003167404,0.0005627212,0.00001260856,0.002407992,0.0218756,0.0455927,0.05911876,0.004827816,0.0008291894],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9757296,0.007014372,0.01620141,0.00006568769,0.00006153627,0.0005696999,0.0002493173,0.0000148395,0.00009350603],"genre_scores_gemma":[0.9782084,0.0007307822,0.02074411,0.00002842175,0.00003351493,0.00004483946,0.0001499585,0.00002420562,0.00003576172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7068108,"threshold_uncertainty_score":0.6404479,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04812154549821666,"score_gpt":0.3392229862842852,"score_spread":0.2911014407860685,"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."}}