Results 261 to 270 of about 884,746 (312)

Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population. [PDF]

Mol Genet Genomic Med
Zhuang J, Jiang Y, Chen Y, Mao A, Chen J, Chen C.   +5 more
europepmc   +1 more source

Characterization of a novel <i>AEL</i> allele harboring a c.28 + 5G>A mutation on the <i>ABO*A2.01</i> background: a study utilizing PacBio third-generation sequencing and functional assays. [PDF]

Front Immunol
Shao LN, Song WQ, Zhou L, Pan LZ, Duan Y, Xiao N, Zhou SH, Liang XH.   +7 more
europepmc   +1 more source

PacBio Third-Generation Sequencing Reveals an ABO Gene Promoter Mutation, c.-35_-18del, Leading to Weakened B Antigen Expression. [PDF]

Ann Lab Med
Shao LN, Xia YX, Yang YC, Li N, Li CX, Zhou SH.   +5 more
europepmc   +1 more source

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Third-generation sequencing for genetic disease.

Clinica Chimica Acta, 2023
Third-generation sequencing (TGS) has led to a brave new revolution in detecting genetic diseases over the last few years. TGS has been rapidly developed for genetic disease applications owing to its significant advantages such as long read length, rapid
Xiaoting Ling, Chenghan Wang, Linlin Li, Liqiu Pan, Chaoyu Huang, Caixia Zhang, Yunhua Huang, Yuling Qiu, Faquan Lin, Yifang Huang   +9 more
semanticscholar   +3 more sources

Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.

Clinical Chemistry, 2023
BACKGROUND Oxford Nanopore Technology (ONT) third-generation sequencing (TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to prepare long-template libraries for long-read TGS, particularly the ONT method for ...
Weilun Huang, Shoufang Qu, Qiongzhen Qin, Xu Yang, Wanqing Han, Y. Lai, Jiaqi Chen, Shihao Zhou, Xuexi Yang, Wanjun Zhou   +9 more
semanticscholar   +3 more sources

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

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

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