{"id":"W1563797194","doi":"10.1002/humu.22837","title":"GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in<i>HNRNPK</i>","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; McGill University; University of Alberta; University of Calgary","funders":"National Human Genome Research Institute; Canadian Institutes of Health Research; Ontario Genomics Institute; Genome Canada","keywords":"Biology; Proband; Genetics; Intellectual disability; Exome sequencing; Frameshift mutation; Genetic heterogeneity; Kabuki syndrome; Phenotype; Identification (biology); Facial dysmorphism; Craniofacial; Bioinformatics; Gene; Computational biology; Mutation","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":[0.0005248885,0.0006869039,0.0004664466,0.00136314,0.0003267823,0.0005490761,0.0004653251,0.0008762897,0.008729834],"category_scores_gemma":[0.002320231,0.000215763,0.0002585008,0.000598564,0.000298758,0.0006852797,0.0009374163,0.0004504053,0.00225884],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001763886,"about_ca_system_score_gemma":0.0002308934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002538336,"about_ca_topic_score_gemma":0.0008399484,"domain_scores_codex":[0.9996879,0.00005760247,0.00003378951,0.0001057169,0.00009180397,0.00002317733],"domain_scores_gemma":[0.9985384,0.0009586401,0.0001955199,0.0001268224,0.00004268266,0.0001378332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.001816903,0.0004137592,0.0842725,0.0005009333,0.0001504692,0.05201112,0.0009899968,0.00215599,0.2574822,0.00547384,0.03222125,0.5625111],"study_design_scores_gemma":[0.0004040972,0.0006655495,0.0868196,0.000236034,0.0002995835,0.2391053,0.0005435855,0.05644628,0.3898112,0.01624054,0.2091927,0.0002355577],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7067009,0.002691521,0.2191483,0.002707259,0.0005210365,0.0002489179,0.00925601,0.04335048,0.01537564],"genre_scores_gemma":[0.7503834,0.001209874,0.2353575,0.0008890907,0.0001720883,0.0001289854,0.003897629,0.001443035,0.006518442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008729834,"threshold_uncertainty_score":0.02920425,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01855007383018929,"score_gpt":0.2746435727122573,"score_spread":0.256093498882068,"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."}}