{"id":"W4391343246","doi":"10.1155/2024/6319030","title":"Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation","year":2024,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Saskatchewan Health; Saskatchewan Health Authority; Manitoba Health","funders":"","keywords":"Chromothripsis; Chromosomal rearrangement; Genetics; Breakpoint; Biology; Chromosomal translocation; Microcephaly; Chromosome; Karyotype; Gene; DNA; DNA damage; Genome instability","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":[0.0001234202,0.000174673,0.0001214487,0.00006342213,0.0001059705,0.00007392034,0.00003331208,0.000127062,0.00009181675],"category_scores_gemma":[0.00002558774,0.0001556407,0.0000562491,0.0001415142,0.0001752671,0.000007220892,0.00004781822,0.0001075116,0.00000716042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005733736,"about_ca_system_score_gemma":0.0002730326,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004355923,"about_ca_topic_score_gemma":0.0001912334,"domain_scores_codex":[0.9988754,0.0000384643,0.0003150696,0.000429106,0.0001387575,0.0002031761],"domain_scores_gemma":[0.9994231,0.00001812958,0.00006676249,0.000344106,0.00007273,0.00007518558],"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":[0.00006782001,0.0001825502,0.006616884,0.0002285919,0.0002058652,0.959232,0.0006064487,0.01564155,0.009435571,0.002023493,0.001773863,0.003985323],"study_design_scores_gemma":[0.000319569,0.0003507422,0.0002470566,0.0001007565,0.00005077968,0.9442783,0.0005246603,0.0004472228,0.02251819,0.000120949,0.03071831,0.0003234379],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933996,0.001729204,0.0005858306,0.00006590998,0.0003184252,0.000263576,0.00009782882,0.00002455074,0.003515085],"genre_scores_gemma":[0.9977345,0.0001110023,0.0009172248,0.00006287686,0.0002749738,0.00005837277,0.0001971028,0.00001868139,0.0006252548],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02894445,"threshold_uncertainty_score":0.6346844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01132309470167359,"score_gpt":0.2490535567493821,"score_spread":0.2377304620477085,"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."}}