{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001153166,0.0001120763,0.00008952188,0.00005321778,0.0001925891,0.00001224668,0.00005503834,0.00004906269,0.00001418552],"category_scores_gemma":[0.00001020634,0.0001294009,0.00006621665,0.0001140745,0.00003436329,0.000005670885,0.00007084422,0.00006265432,2.640809e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003303531,"about_ca_system_score_gemma":0.00003366873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006869266,"about_ca_topic_score_gemma":0.00006838681,"domain_scores_codex":[0.9992186,0.00006241554,0.000191378,0.0002327497,0.0001231034,0.0001717592],"domain_scores_gemma":[0.9996828,0.000005057215,0.0001102695,0.0001317682,0.00002550421,0.00004462845],"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":[0.00003579714,0.0001713187,0.01014046,0.00003216244,0.00004935048,0.0000014415,0.0002242834,0.001075449,0.9858991,0.0000257281,0.00002265227,0.002322292],"study_design_scores_gemma":[0.006022306,0.002684714,0.3310391,0.00005608869,0.0003459071,0.00002200724,0.003794414,0.006176722,0.6177837,0.004396243,0.02699937,0.0006794389],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931782,0.0003741691,0.005703848,0.0001175327,0.0001051329,0.0002894347,0.000108802,0.00001081787,0.0001121028],"genre_scores_gemma":[0.9981762,0.000502767,0.00002525305,0.0005594949,0.00001674667,0.00007241894,0.0005194834,0.00002126751,0.0001063895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3681154,"threshold_uncertainty_score":0.5276817,"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."}}