Results 271 to 280 of about 884,746 (312)
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Journal of Molecular Diagnostics, 2022
Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by the American College of Medical Genetics and Genomics. However, the methods used currently mainly focus on SMN1 copy-number and fail to identify carriers with ...
Shuyuan Li +8 more
semanticscholar +1 more source
Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by the American College of Medical Genetics and Genomics. However, the methods used currently mainly focus on SMN1 copy-number and fail to identify carriers with ...
Shuyuan Li +8 more
semanticscholar +1 more source
Third-generation sequencing: a novel tool detects complex variants in the α-thalassemia gene.
Gene, 2022OBJECTIVE Thalassemia is a monogenic disorder with a high carrier rate in the southern region of China. Most laboratories currently follow the protocol of testing hematologic indicators in individuals with positive hematologic indicators and then using ...
Ju Long +7 more
semanticscholar +1 more source
Clinica chimica acta; international journal of clinical chemistry, 2022
BACKGROUND Thalassemia is a common inherited haemoglobin disorder worldwide, several methods have been utilized in the step-wise screening. Even though hundreds of mutations in globin genes have been reported, novel mutations are continuously emerging as
Xu Chen +10 more
semanticscholar +1 more source
BACKGROUND Thalassemia is a common inherited haemoglobin disorder worldwide, several methods have been utilized in the step-wise screening. Even though hundreds of mutations in globin genes have been reported, novel mutations are continuously emerging as
Xu Chen +10 more
semanticscholar +1 more source
Clinica chimica acta; international journal of clinical chemistry
Thalassemia is one of the most common and damaging monogenic diseases in the world. It is caused by pathogenic variants of α- and/or β-globin genes, which disrupt the balance of these two protein chains and leads to α-thalassemia or β-thalassemia ...
Ju Long +7 more
semanticscholar +1 more source
Thalassemia is one of the most common and damaging monogenic diseases in the world. It is caused by pathogenic variants of α- and/or β-globin genes, which disrupt the balance of these two protein chains and leads to α-thalassemia or β-thalassemia ...
Ju Long +7 more
semanticscholar +1 more source
Third Generation Sequencing of Epigenetic DNA
2023The discovery of epigenetic bases has revolutionised our understanding of disease and development. Meanwhile, advances in sequencing technology have enabled the sequencing of more genomes in increasing detail. In order to understand genetic function with single nucleobase precision, new techniques been developed to sequence the full spectrum of ...
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Legal Medicine
Third-generation sequencing technologies, exemplified by single-molecule real-time sequencing and nanopore sequencing, provide a constellation of advantages, including long read lengths, high throughput, real-time sequencing capabilities, and remarkable ...
Xiaoxin Hu +6 more
semanticscholar +1 more source
Third-generation sequencing technologies, exemplified by single-molecule real-time sequencing and nanopore sequencing, provide a constellation of advantages, including long read lengths, high throughput, real-time sequencing capabilities, and remarkable ...
Xiaoxin Hu +6 more
semanticscholar +1 more source
Clinical Biochemistry, 2022
OBJECTIVE To describe the characterization of a novel deletion causing α-thalassemia. METHODS The proband, a 30-year-old female, displayed mild anemia from thalassemia screening.
Youqiong Li +5 more
semanticscholar +1 more source
OBJECTIVE To describe the characterization of a novel deletion causing α-thalassemia. METHODS The proband, a 30-year-old female, displayed mild anemia from thalassemia screening.
Youqiong Li +5 more
semanticscholar +1 more source
MinimapR: A parallel alignment tool for the analysis of large-scale third-generation sequencing data
Comput. Biol. Chem., 2022The development of third-generation sequencing technology has brought significant changes and influences on genomics. Compared to the second-generation sequencing methods, the third-generation technologies produce around 100 times longer reads to reveal ...
Zihang Wang +4 more
semanticscholar +1 more source
Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing
Clinical LaboratoryThis study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.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.Out of ...
Minjun, Huang +3 more
openaire +2 more sources
Benchmarking variant callers in next-generation and third-generation sequencing analysis
Briefings Bioinform., 2020DNA variants represent an important source of genetic variations among individuals. Next- generation sequencing (NGS) is the most popular technology for genome-wide variant calling. Third-generation sequencing (TGS) has also recently been used in genetic
Surui Pei +5 more
semanticscholar +1 more source