Overview of a DNA methylation biomarker development pipeline, from discovery and assay design to screening, performance evaluation, and specificity testing in clinical sample matrices. ABSTRACT Background Tissue‐specific cell‐free DNA (cfDNA) offers promise as a minimally invasive biomarker of organ injury.
David H. Murray +6 more
wiley +1 more source
Tumors and tumor-like lesions of the gall bladder—A review
Gall bladder carcinoma (GBC) remains a formidable diagnostic and therapeutic challenge, characterized by its often-incidental discovery and diverse spectrum of lesions, spanning from benign mimickers to malignant neoplasms.
Nuzhat Husain +2 more
doaj +1 more source
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou +7 more
wiley +1 more source
Effect of blood pressure and glycemic control on the plasma cell-free DNA in hemodialysis patients
Background: The plasma levels of cell-free DNA (cfDNA) are known to be elevated under inflammatory or apoptotic conditions. Increased cfDNA levels have been reported in hemodialysis (HD) patients.
Da Wun Jeong +9 more
doaj +1 more source
Laboratory tests must exhibit robustness to common sources of test variability, particularly for tests with the potential to inform treatment decisions. This study presents data that shows that a phased variant enrichment and detection sequencing (PhasED‐Seq)‐based circulating tumor DNA minimal residual disease (ctDNA‐MRD) test is robust, with results ...
Nina Klimova +7 more
wiley +1 more source
Revisiting Epidermal Growth Factor Receptor (EGFR) Amplification as a Target for Anti-EGFR Therapy: Analysis of Cell-Free Circulating Tumor DNA in Patients With Advanced Malignancies. [PDF]
PurposeTo date, evidence for tissue epidermal growth factor receptor (EGFR) overexpression as a biomarker for anti-EGFR therapies has been weak. We investigated the genomic landscape of EGFR amplification in blood-derived cell-free tumor DNA (cfDNA ...
Fanta, Paul T +13 more
core +1 more source
Estrogen receptor mutations and splice variants determined in liquid biopsies from metastatic breast cancer patients [PDF]
Mutations and splice variants in the estrogen receptor (ER) gene, ESR1, may yield endocrine resistance in metastatic breast cancer (MBC) patients. These putative endocrine resistance markers are likely to emerge during treatment, and therefore, its ...
Beije, N. (Nick) +16 more
core +1 more source
Hemophilia A: An Ideal Disease for Prenatal Therapy
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada +2 more
wiley +1 more source
Plasma cfDNA as a Potential Biomarker to Evaluate the Efficacy of Chemotherapy in Gastric Cancer
Yuejiao Zhong,1,* Qingyu Fan,2,* Zhaofei Zhou,1 Yajing Wang,1 Kang He,1 Jianwei Lu1 1Jiangsu Cancer Hospital and Jiangsu Institute of Cancer Research and the Affiliated Cancer Hospital of Nanjing Medical University, Nanjing, People’s Republic of ...
Zhong Y +5 more
doaj
Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy [PDF]
Background: Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT.
A Fortuny +48 more
core +1 more source

