{"id":"W3165039645","doi":"10.1002/ajmg.a.62347","title":"<scp><i>TSPEAR</i></scp> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"National Institute on Deafness and Other Communication Disorders; NIH Office of the Director; National Human Genome Research Institute; National Institutes of Health; National Science Foundation","keywords":"Ectodermal dysplasia; Hearing loss; Phenotype; Loss function; Genetics; Congenital hearing loss; Exome sequencing; Sensorineural hearing loss; Biology; Agenesis; Tooth loss; Audiology; Medicine; Gene; Dentistry","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":[0.0004890526,0.0007274938,0.0004882349,0.0007816561,0.0012042,0.0008291581,0.0005361872,0.0005718041,0.002636181],"category_scores_gemma":[0.001286161,0.0006028963,0.000632353,0.0007748127,0.0004058261,0.0003716755,0.0006499887,0.0007655935,0.0005442643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002720125,"about_ca_system_score_gemma":0.0004047708,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006490587,"about_ca_topic_score_gemma":0.006911476,"domain_scores_codex":[0.9994116,0.00008467217,0.00005537791,0.0002685589,0.0001021066,0.00007767021],"domain_scores_gemma":[0.9991956,0.00009444921,0.0001569139,0.0001589211,0.0001169361,0.0002771594],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003673539,0.0001604935,0.9826242,0.00001411062,0.0002654948,0.005113407,0.0006843032,0.00005150878,0.007006369,0.0001017724,0.0007021644,0.002908755],"study_design_scores_gemma":[0.0000595907,0.0003772003,0.9794313,0.0000115626,0.0001551289,0.01749934,0.0004293437,0.0002938727,0.0005607794,0.00009522949,0.001062865,0.00002380508],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989568,0.00005438914,0.0002010391,0.00003297229,0.000005829705,0.00001675693,0.0002933169,0.000006404022,0.0004325575],"genre_scores_gemma":[0.9988649,0.00006568224,0.0001795177,0.00004467182,0.00001505854,0.00001367631,0.0003674462,0.000009981843,0.0004393127],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006490587,"threshold_uncertainty_score":0.0129056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01337278198807736,"score_gpt":0.252821591807589,"score_spread":0.2394488098195116,"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."}}