{"id":"W4224229333","doi":"10.1111/ahg.12469","title":"A novel leaky splice variant in centromere protein J (<i>CENPJ</i>)‐associated Seckel syndrome","year":2022,"lang":"en","type":"article","venue":"Annals of Human Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute","funders":"Department of Biotechnology, Ministry of Science and Technology, India","keywords":"Microcephaly; Biology; Genetics; Sanger sequencing; Exon; Exome sequencing; splice; Alternative splicing; Exome; RNA splicing; Gene; Mutation; RNA","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003295036,0.0002082897,0.0002770703,0.0001085231,0.0001496914,0.00001203628,0.0004372905,0.0001319164,0.00009055724],"category_scores_gemma":[0.00003175079,0.0002481821,0.0001404333,0.0002108442,0.00006614149,0.000003144375,0.0004397479,0.0002193263,0.000003223878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002331522,"about_ca_system_score_gemma":0.0001052756,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000131078,"about_ca_topic_score_gemma":0.0002839746,"domain_scores_codex":[0.998357,0.0001050059,0.0004422362,0.000411949,0.0002472987,0.000436515],"domain_scores_gemma":[0.9991053,0.000006544591,0.0002323041,0.0004680399,0.0001064323,0.00008134502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004079335,0.0006883614,0.001121721,0.00003539842,0.00009629746,0.00003566951,0.0001522708,0.0008139524,0.9953502,0.0002167636,0.001195227,0.0002533665],"study_design_scores_gemma":[0.007677429,0.007847873,0.1061424,0.0002134063,0.0001422066,0.0006162617,0.001417188,0.001439998,0.8093612,0.00151272,0.06112241,0.00250683],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972538,0.001373127,0.0001377672,0.0001496869,0.000067301,0.0004436577,0.0001952274,0.00001051883,0.0003688551],"genre_scores_gemma":[0.9975935,0.0002176727,0.0002672566,0.0005032716,0.00004200768,0.00007382119,0.0003534959,0.00004571122,0.0009033013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1859889,"threshold_uncertainty_score":0.999997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0254840708350424,"score_gpt":0.271586431189061,"score_spread":0.2461023603540186,"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."}}