{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001951614,0.00192657,0.0009889412,0.001826698,0.001177526,0.00108563,0.0009114064,0.002909694,0.001928377],"category_scores_gemma":[0.00173205,0.0007528669,0.0005968764,0.001420772,0.001305701,0.0008622844,0.001567518,0.001576321,0.0003507728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005817192,"about_ca_system_score_gemma":0.0005272022,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001205291,"about_ca_topic_score_gemma":0.001518046,"domain_scores_codex":[0.9995214,0.00004551815,0.00003953551,0.000165521,0.00007507523,0.0001529481],"domain_scores_gemma":[0.9990621,0.0002421049,0.0002400997,0.00006550896,0.00004220498,0.0003480236],"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":[0.0000142675,0.0000105992,0.005101589,0.00002059485,0.000008555106,0.9919639,0.0001136781,0.00005363423,0.001585428,0.0001221727,0.0001842326,0.0008214509],"study_design_scores_gemma":[0.00000560517,0.00002575807,0.003475814,0.000003231885,0.00000782412,0.9957268,0.00004839386,0.00007136785,0.000302048,0.00009588099,0.0002308907,0.000006383455],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911994,0.001962635,0.001711573,0.0008692467,0.00009673632,0.00007072252,0.0002337518,0.0001506517,0.003705237],"genre_scores_gemma":[0.9972186,0.0007262121,0.0007563087,0.0002139691,0.0002574089,0.00001700982,0.000100899,0.00002139732,0.0006882244],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002909694,"threshold_uncertainty_score":0.00645113,"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."}}