{"id":"W4207032178","doi":"10.3389/fgene.2022.815210","title":"Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotchkiss Brain Institute; Alberta Children's Hospital; University of Calgary","funders":"Alberta Children's Hospital Foundation; Children's Hospital Foundation; University of Calgary","keywords":"Biology; Genetics; Ataxia-telangiectasia; Genome instability; Exome sequencing; Gene; Exon; Mutation; DNA damage; DNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003433152,0.00304791,0.002032416,0.002307073,0.002765607,0.0016906,0.001620625,0.007766101,0.00275816],"category_scores_gemma":[0.002307877,0.001422928,0.001922398,0.001488498,0.002053478,0.001883044,0.002206413,0.00464728,0.0009580362],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001717381,"about_ca_system_score_gemma":0.001018885,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004668523,"about_ca_topic_score_gemma":0.004521559,"domain_scores_codex":[0.9987805,0.0001005102,0.0001107653,0.000582274,0.0001542423,0.0002717653],"domain_scores_gemma":[0.9984378,0.000345169,0.0002794809,0.0001385686,0.0001067869,0.0006922148],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00002325885,0.00003556573,0.002942205,0.00001777165,0.000009916301,0.9948475,0.000158008,0.00005315449,0.0008783379,0.0001995716,0.000225315,0.0006092932],"study_design_scores_gemma":[0.000007467364,0.00003571382,0.001634462,0.000008028765,0.00001155651,0.9974298,0.00004959996,0.000123095,0.0003203176,0.0001042492,0.0002654638,0.00001020059],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9720142,0.004345041,0.007323714,0.00581897,0.0007989773,0.0002803323,0.0009890051,0.0003814898,0.008048264],"genre_scores_gemma":[0.9916694,0.001044951,0.002695926,0.001386409,0.0008382221,0.00004770785,0.0002436777,0.00006660673,0.002007119],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007766101,"threshold_uncertainty_score":0.01246059,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005186065997075246,"score_gpt":0.1896311912901988,"score_spread":0.1844451252931236,"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."}}