Allele-Specific Digital PCR Enhances Precision and Sensitivity in the Detection and Quantification of Copy Number Alterations in Heterogeneous DNA Samples

Clin Chem. 2025 Jun 19:hvaf054. doi: 10.1093/clinchem/hvaf054. Online ahead of print. ABSTRACT BACKGROUND: While genetic analyses are vital in cancer diagnostics, measuring copy number (CN) alterations remains challenging, especially in heterogenous samples such as (liquid) biopsies. Using digital PCR, CN alterations are classically studied by comparing the abundances of the target of interest to a … Read more

eGFR Inaccuracy in the Assessment of Living Kidney Transplant Donor Eligibility

Clin Chem. 2025 Jun 18:hvaf071. doi: 10.1093/clinchem/hvaf071. Online ahead of print. ABSTRACT BACKGROUND: Accurate glomerular filtration rate (GFR) estimation is crucial for evaluating living kidney donors, especially when measured GFR (mGFR) is unavailable. This study compares the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI), full age spectrum (FAS), and European Kidney Function Consortium (EKFC) creatinine- and/or … Read more

Cell-Free DNA Comprises the Strand-Specific Characteristic Associated with Transcription and Methylation

Clin Chem. 2025 Jun 16:hvaf070. doi: 10.1093/clinchem/hvaf070. Online ahead of print. ABSTRACT BACKGROUND: Cell-free DNA (cfDNA) is a promising biomarker and carries information about physiological and pathological states. Nucleosome and transcription factor footprints have been extensively studied based on double-stranded cfDNA sequencing; however, protein-DNA interaction footprints in single-stranded cfDNA fragments remain undercharacterized. METHODS: We used … Read more

Advances in Syphilis Diagnostics to Address the 21st-Century Epidemic

Clin Chem. 2025 Jun 13:hvaf072. doi: 10.1093/clinchem/hvaf072. Online ahead of print. ABSTRACT BACKGROUND: For 20 years, the United States has experienced a progressive rise in syphilis cases, increasing to >209 000 cases in 2023. The current case rate of 62.5 per 100 000 persons represents a 30-fold increase since 2000-2001, when a concerted national effort … Read more

Optimal Value of Mutant KRAS Circulating Tumor DNA for Predicting Prognosis and Monitoring in Patients with Pancreatic Adenocarcinoma: A Prospective Multicenter Cohort Study

Clin Chem. 2025 Jun 13:hvaf066. doi: 10.1093/clinchem/hvaf066. Online ahead of print. ABSTRACT BACKGROUND: The generalizability and applicability of circulating tumor DNA (ctDNA) KRAS mutations in patients with pancreatic adenocarcinoma (PAC) remain elusive. We aimed to propose a cut-off value of mutant KRAS (mKRAS) concentration in ctDNA and validate its clinical utility. METHODS: This prospective, multicenter … Read more

Influence of Macrotroponin on the 99th Percentile Threshold in 2 High-Sensitivity Cardiac Troponin Assays

Clin Chem. 2025 Jun 10:hvaf068. doi: 10.1093/clinchem/hvaf068. Online ahead of print. ABSTRACT BACKGROUND: Cardiac troponin (cTn) levels exceeding the 99th percentile upper reference limit and a rise/fall pattern are key for diagnosing myocardial injury and infarction. Macrotroponins, formed by patient anti-cTn antibodies targeting cTn, can cause persistently elevated cTn levels without ongoing myocardial injury. The … Read more

Discordance between Cystatin C-Based and Creatinine-Based Estimated Glomerular Filtration Rate and Mortality in the General Population

Clin Chem. 2025 Jun 4:hvaf063. doi: 10.1093/clinchem/hvaf063. Online ahead of print. ABSTRACT BACKGROUND: The consequences for health outcomes of the discordance in cystatin C-based (eGFRcys) and creatinine-based (eGFRcr) estimated glomerular filtration rates are gaining attention. However, the association of discordance with all-cause mortality in the general population has not been explored. METHODS: A total of … Read more

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