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Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Background: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.
View Article and Find Full Text PDFQOT: Quantized Optimal Transport for sample-level distance matrix in single-cell omics.
Brief Bioinform
November 2024
Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA 19104, United States.
Single-cell technologies have enabled the high-dimensional characterization of cell populations at an unprecedented scale. The innate complexity and increasing volume of data pose significant computational and analytical challenges, especially in comparative studies delineating cellular architectures across various biological conditions (i.e.
View Article and Find Full Text PDFSingle-cell phenotyping of extracellular electron transfer via microdroplet encapsulation.
Appl Environ Microbiol
January 2025
McKetta Department of Chemical Engineering, The University of Texas at Austin, Austin, Texas, USA.
Electroactive organisms contribute to metal cycling, pollutant removal, and other redox-driven environmental processes via extracellular electron transfer (EET). Unfortunately, developing genotype-phenotype relationships for electroactive organisms is challenging because EET is necessarily removed from the cell of origin. Microdroplet emulsions, which encapsulate individual cells in aqueous droplets, have been used to study a variety of extracellular phenotypes but have not been applied to investigate EET.
View Article and Find Full Text PDFThe importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.
Turk J Pediatr
December 2024
Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Türkiye.
Background: The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.
Methods: In this study, we retrospectively evaluated the prognostic, and therapeutic utility of a targeted NGS panel covering twenty-five genes, in 21 children with de novo and 8 with relapsed or secondary AML.
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