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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

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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 detection, and precise detection of complex and rare structural variants.
Xiaoting Ling, Chenghan Wang, Linlin Li, Liqiu Pan, Chaoyu Huang, Caixia Zhang, Yunhua Huang, Yuling Qiu, Faquan Lin, Yifang Huang   +9 more
openaire   +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

Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants

Clinical Chemistry, 2023
Abstract 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 analysis of hemoglobinopathy variants ...
Weilun Huang, Shoufang Qu, Qiongzhen Qin, Xu Yang, Wanqing Han, Yongli Lai, Jiaqi Chen, Shihao Zhou, Xuexi Yang, Wanjun Zhou   +9 more
openaire   +2 more sources

Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing

Clinical Laboratory
This 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, Jiexiang, Huang, Liumin, Yu, Kun, Lin   +3 more
openaire   +2 more sources

Third Generation DNA Sequencing with a Nanopore

2011
With the advent of Next-Generation-Sequencing (NGS) technologies, an enormous volume of DNA sequencing data can be generated at low cost, placing genomic science within the grasp of everyday medicine. However, mired in this voluminous data, a new problem has emerged: the assembly of the genome from the short reads.
Gregory Timp, Utkur Mirsaidov, Winston Timp, Jiwook Shim, Deqiang Wang, Valentin Dimitrov, Jan Scrimgeour, Chunchen Lin, Jeffrey Comer, Anthony H. Ho, Xueqing Zou, Aleksei Aksimentiev, Klaus Schulten   +12 more
openaire   +1 more source

Third-generation sequencing fireworks at Marco Island

Nature Biotechnology, 2010
David J Munroe, Timothy J R Harris
openaire   +1 more source