{"id":"W4392242077","doi":"10.26508/lsa.202302181","title":"A comparative study of structural variant calling in WGS from Alzheimer’s disease families","year":2024,"lang":"en","type":"article","venue":"Life Science Alliance","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Aging","funders":"U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; National Heart, Lung, and Blood Institute; Uniformed Services University of the Health Sciences; National Institutes of Health; Österreichische Forschungsförderungsgesellschaft; National Institute on Aging; Medizinische Universität Graz; Broad Institute; Oesterreichische Nationalbank; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Alzheimer's Coordinating Center; Erasmus Medisch Centrum; Austrian Science Fund; ZonMw; Vanderbilt University; EU Joint Programme – Neurodegenerative Disease Research; European Commission; University of Pennsylvania; National Human Genome Research Institute; Russian Foundation for Basic Research; University of Miami; University of Toronto; Case Western Reserve University; Karl-Franzens-Universität Graz; U.S. Department of Health and Human Services","keywords":"Sanger sequencing; Indel; Genotyping; Biology; Genetics; Computational biology; Genome; Whole genome sequencing; Breakpoint; DNA sequencing; Single-nucleotide polymorphism; Gene; Genotype; Chromosome","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":[0.0162181,0.0008949933,0.000816474,0.003138514,0.0008741502,0.001070832,0.0008056927,0.0008799495,0.00114728],"category_scores_gemma":[0.03675773,0.0005280506,0.0008761742,0.001438197,0.00100596,0.0006528691,0.001717929,0.0005354665,0.0005023087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005791073,"about_ca_system_score_gemma":0.0005095626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002746128,"about_ca_topic_score_gemma":0.004478743,"domain_scores_codex":[0.9871709,0.004712082,0.001009842,0.00307367,0.003454649,0.0005789411],"domain_scores_gemma":[0.9809783,0.01263157,0.001338224,0.002924014,0.001672682,0.0004550872],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001843719,0.0001814209,0.6304793,0.0005579137,0.001824376,0.002039703,0.007964431,0.0155789,0.1832358,0.001304585,0.002005091,0.1529847],"study_design_scores_gemma":[0.00008283678,0.0006569807,0.8443806,0.0001007581,0.0005269821,0.005826906,0.001071679,0.0403792,0.09932854,0.001361641,0.006142835,0.0001410365],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9725531,0.0002704281,0.02413649,0.00008254579,0.00001414357,0.00008252313,0.001046412,0.0005548677,0.001259555],"genre_scores_gemma":[0.9571412,0.0002085725,0.03652897,0.0001249064,0.00001372991,0.0001877055,0.004597593,0.0004722076,0.0007252265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0162181,"threshold_uncertainty_score":0.08577049,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03162028866889537,"score_gpt":0.3200239697807732,"score_spread":0.2884036811118778,"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."}}