Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.

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Title: Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.
Authors: O'Reilly RL; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Victorian Heart Institute, Monash University, Clayton, Victoria, Australia., Harraka P; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Victorian Heart Institute, Monash University, Clayton, Victoria, Australia., Burke J; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Belluoccio D; Diagnostics and Genomics Group, Agilent Technologies Australia Pty. Ltd., Mulgrave, Victoria, Australia., Yeh P; Monash Haematology, Monash Health, Clayton, Victoria, Australia; Department of Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Howlett K; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Department of Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Behrouzfar K; Department of Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Rewse A; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Tsimiklis H; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Giles GG; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Cancer Epidemiology Division, Cancer Council Victoria, East Melbourne, Victoria, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia., Bubb KJ; Victorian Heart Institute, Monash University, Clayton, Victoria, Australia; Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia., Nicholls SJ; Victorian Heart Institute, Monash University, Clayton, Victoria, Australia; Victorian Heart Hospital, Clayton, Victoria, Australia., Milne RL; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Cancer Epidemiology Division, Cancer Council Victoria, East Melbourne, Victoria, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Victorian Heart Institute, Monash University, Clayton, Victoria, Australia; Cancer Epidemiology Division, Cancer Council Victoria, East Melbourne, Victoria, Australia; Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia. Electronic address: melissa.southey@monash.edu.
Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2025 Aug; Vol. 27 (8), pp. 705-712. Date of Electronic Publication: 2025 May 15.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1943-7811
DOI:10.1016/j.jmoldx.2025.04.007