Results 271 to 280 of about 884,760 (321)

Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing. [PDF]

Sci Rep
Zhuang J, Zhang N, Zheng Y, Jiang Y, Chen Y, Mao A, Chen C.   +6 more
europepmc   +1 more source

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

Benchmarking variant callers in next-generation and third-generation sequencing analysis

Briefings in Bioinformatics, 2020
DNA 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, Tao Liu, Xue Ren, Weizhong Li, Chongjian Chen, Zhi Xie   +5 more
semanticscholar   +3 more sources