{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00410998,0.0005918781,0.0008238083,0.002171138,0.0008001133,0.001319267,0.0005345499,0.0008606145,0.007120926],"category_scores_gemma":[0.01009075,0.0004155102,0.001021094,0.001582298,0.0003774581,0.0005289738,0.001069721,0.0008421034,0.002079785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002657342,"about_ca_system_score_gemma":0.0007139501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004080914,"about_ca_topic_score_gemma":0.01008454,"domain_scores_codex":[0.9984123,0.0004799824,0.0001631794,0.0004958234,0.000321858,0.0001269389],"domain_scores_gemma":[0.9931149,0.00336429,0.0007394627,0.001474463,0.001005157,0.0003018268],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002235464,0.0002848968,0.4337234,0.001146653,0.002042445,0.001922277,0.002294954,0.01207893,0.3597134,0.005089999,0.01808664,0.161381],"study_design_scores_gemma":[0.0002816195,0.0006234028,0.7745931,0.0003854789,0.001248003,0.002499387,0.001097303,0.04665261,0.0774665,0.01953008,0.07535157,0.0002708909],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7321332,0.002920969,0.2118445,0.0008193017,0.0002715095,0.0003329885,0.04154561,0.003564244,0.006567669],"genre_scores_gemma":[0.7796769,0.001001234,0.1812208,0.0006723301,0.0001659408,0.0003886672,0.0311146,0.001732736,0.004026889],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007120926,"threshold_uncertainty_score":0.02382189,"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."}}