{"id":"W3217704538","doi":"10.1016/j.gim.2021.10.014","title":"Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"National Institute of Mental Health; Perelman School of Medicine, University of Pennsylvania; Directorate for Biological Sciences; Regeneron Pharmaceuticals; National Institutes of Health; Fondazione Bambino Gesù; Ministero della Salute; National Institute for Health and Care Research; European Commission; Newlife the Charity for Disabled Children; National Center for Advancing Translational Sciences; Medical Research Council; Department of Health and Social Care; National Human Genome Research Institute; University of Exeter; Texas Children's Hospital; Johns Hopkins University; Children's Mercy Hospital; Cleveland Clinic; University of Rochester; Institute for Translational Medicine and Therapeutics; Cancer Research UK; Wellcome Trust; Royal Devon and Exeter NHS Foundation Trust; Medical Center, University of Rochester; University of Pennsylvania; Children's Hospital of Philadelphia","keywords":"Missense mutation; Phenotype; Biology; In silico; Genetics; Allele; Disease; Gene; Medicine; Pathology","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":[0.0002184811,0.0005558332,0.0001981587,0.0005751813,0.0001726756,0.0002420936,0.0002202283,0.0004839568,0.00139772],"category_scores_gemma":[0.0005039506,0.0001041636,0.0001384299,0.0002087829,0.0004238403,0.0002129787,0.0004455538,0.000309551,0.0001515717],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001285791,"about_ca_system_score_gemma":0.0002390843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003066191,"about_ca_topic_score_gemma":0.0003019382,"domain_scores_codex":[0.9998676,0.00002221469,0.0000199171,0.00004380353,0.00002950187,0.00001697476],"domain_scores_gemma":[0.9998271,0.00005768531,0.00005336846,0.00001112809,0.00001611689,0.00003459497],"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":[0.001294958,0.0001623454,0.2433722,0.0002883516,0.00008956635,0.07425515,0.0006939052,0.001725001,0.640538,0.001887461,0.0006205207,0.03507261],"study_design_scores_gemma":[0.0001795392,0.0009453843,0.4301852,0.0001383853,0.0002180599,0.3763189,0.0007147465,0.006279713,0.1771471,0.00233024,0.005496346,0.00004625815],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963149,0.0005629538,0.002266893,0.0001118721,0.000004163011,0.00001374941,0.000156526,0.00002732799,0.0005415345],"genre_scores_gemma":[0.9973013,0.0002588722,0.002051229,0.00004541579,0.000009481432,0.00000813346,0.0001547472,0.000006662215,0.0001641634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00139772,"threshold_uncertainty_score":0.004675865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01879297917053429,"score_gpt":0.317658858108489,"score_spread":0.2988658789379547,"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."}}