{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004066883,0.00007428387,0.00008361148,0.00003557754,0.0000371282,0.00002986797,0.00005541346,0.00007015609,0.000004772498],"category_scores_gemma":[0.00005243079,0.00006186846,0.000007553878,0.0000874117,0.0001198266,0.00002759859,0.00001516083,0.00005121128,4.777752e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003661953,"about_ca_system_score_gemma":0.00006499809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004585527,"about_ca_topic_score_gemma":0.000698108,"domain_scores_codex":[0.9993559,0.0001085644,0.0002179314,0.0001426621,0.00009148355,0.00008349259],"domain_scores_gemma":[0.9997016,0.00001603396,0.00009010635,0.0001099088,0.00005518156,0.00002714355],"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":[0.0004304098,0.0004752609,0.06100387,0.0002465566,0.0001003677,0.00001700624,0.1067378,0.001242903,0.8106207,0.00361321,0.0007173656,0.01479455],"study_design_scores_gemma":[0.005670032,0.002291478,0.7752678,0.00008802982,0.00009041907,0.0004663295,0.03105332,0.001261745,0.1748472,0.007464441,0.0008634087,0.0006358048],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931462,0.0001588176,0.006261766,0.00007947931,0.00001057781,0.0002657741,0.00001686584,0.000002988394,0.0000575686],"genre_scores_gemma":[0.9995161,0.00002311256,0.0001185135,0.00003090486,0.00001505214,0.00004427004,0.0001731292,0.000006314043,0.00007258118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7142639,"threshold_uncertainty_score":0.2522923,"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."}}