Results 281 to 290 of about 884,760 (321)

DNA Sequencing and the Third-Generation Sequencing Revolution.

Methods in molecular biology
Jamie Harrison
semanticscholar   +2 more sources

Quality of Third Generation Sequencing

Journal of Computational and Theoretical Nanoscience, 2020
Third generation sequencing (TGS) relates to long reads but with relatively high error rates. Quality of TGS is a hot topic, dealing with errors. This paper combines and investigates three quality related metrics. They are basecalling accuracy, Phred Quality Scores, and GC content. For basecalling accuracy, a deep neural network is adopted.
Ali Elbialy, M. A. El-Dosuky, Ibrahim M. El-Henawy   +2 more
openaire   +1 more source

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Clinica chimica acta; international journal of clinical chemistry, 2023
BACKGROUND PCR, Sanger sequencing and NGS are often employed for carrier screening of thalassemia but all of these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehensive analysis of ...
Jiwu Lou, Manna Sun, Aiping Mao, Yinyin Liu, Ying Zhao, Youqing Fu, Yunshi Dai, Fu Xiong, Dongzhi Li, Juyan Zhang, Tizhen Yan, Yanhui Liu   +11 more
semanticscholar   +1 more source

Full-Length Transcript Phasing with Third-Generation Sequencing

2022
Haplotyping individual full-length transcripts can be important in diagnosis and treatment of certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat sequences are the cause of over 40 neurological disorders. In many of these conditions, expanding a polymorphic repeat beyond a given threshold has been strongly ...
Nenad, Svrzikapa, Ramakrishna, Boyanapalli   +1 more
openaire   +2 more sources

Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing.

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, Xu Han, Yan Xu, Chunxin Chang, Li Gao, Jiaqi Li, Yulin Lu, Aiping Mao, Yanlin Wang   +8 more
semanticscholar   +1 more source

Third-generation sequencing: a novel tool detects complex variants in the α-thalassemia gene.

Gene, 2022
OBJECTIVE 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, Lei Sun, Feifei Gong, Chenghong Zhang, Aiping Mao, Yulin Lu, Jiaqi Li, Enqi Liu   +7 more
semanticscholar   +1 more source

A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: case report from Baoan, China.

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, Mingyue Luo, Lei Pan, Yuting Huang, Zehao Yan, Kai Shen, Guang-xing Mai, Hui Liang, Jiaqi Li, Yiwei Chen, Likuan Xiong   +10 more
semanticscholar   +1 more source

Third Generation Sequencing of Epigenetic DNA

2023
The 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 ...
openaire   +1 more source

Research progress and application of the third-generation sequencing technologies in forensic medicine.

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, Jinjie Liu, Tingyu Xu, Kaiyue Qin, Yun-Peng Feng, Zhenjun Jia, Xingchun Zhao   +6 more
semanticscholar   +1 more source

Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing.

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, Liang Liang, Weilin Guo, Xin Wu, Ting Qin, M. Tian   +5 more
semanticscholar   +1 more source