{"id":"W4309862263","doi":"10.1002/mds.29280","title":"Detection and Characterization of a De Novo <i>Alu</i> Retrotransposition Event Causing <i><scp>NKX2</scp>‐1</i>‐Related Disorder","year":2022,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"IONICS Mass Spectrometry (Canada)","funders":"Medical Research Council; European Commission; University College London; Action Medical Research; Brain Research UK","keywords":"Alu element; Proband; Sanger sequencing; Haploinsufficiency; Genetics; Exome sequencing; Exon; Biology; Medicine; DNA sequencing; Phenotype; Gene; Genome; Mutation; Human genome","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":[0.0001429951,0.0003306523,0.0002107028,0.0005008306,0.0002217157,0.0004417001,0.0002114053,0.0006789471,0.001244833],"category_scores_gemma":[0.000626338,0.0001363088,0.0003475124,0.0002841758,0.0002321831,0.0001180737,0.0002233612,0.0003591183,0.0004957989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001932909,"about_ca_system_score_gemma":0.0001591445,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006774683,"about_ca_topic_score_gemma":0.0008626008,"domain_scores_codex":[0.999846,0.00001303517,0.00002312562,0.00005493771,0.00003857294,0.00002427006],"domain_scores_gemma":[0.9996699,0.0001068845,0.0000913732,0.00003828303,0.00003164629,0.00006177704],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0002818319,0.00008564672,0.05771948,0.0001296945,0.00007214344,0.02006416,0.0003620261,0.000467212,0.9105152,0.0004113441,0.0002699154,0.009621143],"study_design_scores_gemma":[0.00008473396,0.0006630108,0.3725597,0.0001210139,0.0004040616,0.1181324,0.0005058053,0.006859823,0.4886166,0.0003833123,0.01162306,0.00004648386],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954333,0.0002334328,0.003063779,0.00005396871,0.00001775146,0.00003983071,0.0005893714,0.00004542147,0.0005231402],"genre_scores_gemma":[0.9945927,0.0001289316,0.003804879,0.00008521775,0.00001363279,0.0000160524,0.0009853775,0.00002561748,0.0003475409],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001244833,"threshold_uncertainty_score":0.004164398,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002327353994999953,"score_gpt":0.185713942529298,"score_spread":0.183386588534298,"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."}}