{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004824554,0.000240269,0.0003281149,0.0002058104,0.0001050867,0.00002182422,0.0002090669,0.0001421087,0.00001146408],"category_scores_gemma":[0.00005103725,0.0002675565,0.00005897128,0.0003591524,0.00006295046,0.000005963553,0.000353846,0.0002144441,5.608192e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002614333,"about_ca_system_score_gemma":0.0001862628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001206317,"about_ca_topic_score_gemma":0.0004815546,"domain_scores_codex":[0.9980558,0.0001152241,0.0004945886,0.0006860047,0.0002489751,0.0003994578],"domain_scores_gemma":[0.999031,0.000007064435,0.00021298,0.0005869422,0.00005117219,0.0001108288],"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":[0.0007432879,0.0002427196,0.004024465,0.00009663746,0.0002771833,0.0291474,0.0009334427,0.02308084,0.9380032,0.00005122246,0.000417669,0.002981889],"study_design_scores_gemma":[0.02119191,0.01420963,0.01680842,0.0002771423,0.001150494,0.6542093,0.01594414,0.03875291,0.2083477,0.001396351,0.02183682,0.005875121],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8780434,0.003626973,0.117194,0.00002793601,0.0003654369,0.0005678675,0.0001221069,0.00001243373,0.00003987041],"genre_scores_gemma":[0.9840929,0.00009902235,0.01508871,0.0000929041,0.00006478869,0.0001238253,0.0002585444,0.00005652366,0.0001227587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7296555,"threshold_uncertainty_score":0.9999776,"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."}}