Results 1 to 10 of about 1,856 (207)

Improving the sensitivity of long read overlap detection using grouped short k-mer matches

BMC Genomics, 2019
Background Single-molecule, real-time sequencing (SMRT) developed by Pacific BioSciences produces longer reads than second-generation sequencing technologies such as Illumina.
Nan Du, Jiao Chen, Yanni Sun
doaj   +1 more source

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders
AbstractLong‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
openaire   +2 more sources

Application of third-generation sequencing technology in the genetic testing of thalassemia

Molecular Cytogenetics
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China. Severe α-thalassemia and intermediate α-thalassemia are among the most common birth defects in southern China.
Weihao Li, Yanchou Ye
openaire   +3 more sources

SMART-RNA-Metavirome: a practical RNA metavirome platform compatible with high-throughput sequencing of both short and long reads

Infectious Diseases of Poverty
Background The RNA virosphere's extensive diversity and its role in emerging infectious diseases underscore the importance of non-targeted sequencing for identifying unknown or rare pathogens, including co-infections.
Xiaohua Liu, Ziyao Li, Xiang Guo, Liu Ge, Minling Hu, Qing He, Xiaoqing Zhang, Ziqing Feng, Yuji Wang, Lingzhai Zhao, Shu Zeng, Wenwen Ren, Haiyang Chen, Chunmei Wang, Rangke Wu, Wei Zhao, Fuchun Zhang, Xiao-Guang Chen, Xiaohong Zhou   +18 more
doaj   +1 more source

Benchmarking short- and long-read sequencing technologies for metagenomic profiling of microbiomes

Scientific Reports
Two culture-independent methods, amplicon-based sequencing and shotgun metagenomics, have significantly advanced the study of microbial communities. To date, short-read sequencing technologies have enabled high accuracy and deep coverage, while long-read
Grazia Visci, Elisabetta Notario, Giuseppe Defazio, Mariano Francesco Caratozzolo, Sharon Natasha Cox, Bruno Fosso, Marinella Marzano, Graziano Pesole   +7 more
doaj   +1 more source

Genetic variation associated with Marek’s disease resistance and susceptibility in white leghorn chickens

Poultry Science
Despite of effective control by vaccination, Marek’s disease virus (MDV) remains a significant threat to poultry health and productivity due to continued virus evolution, which drives the need to better understand host genetic factors underlying the ...
Christos Dadousis, Nicos Angelopoulos, Yaoyao Zhang, Anna Eleonora Karagianni, Huanmin Zhang, John A. Hammond, Venugopal Nair, Yongxiu Yao, Nophar Geifman   +8 more
doaj   +1 more source

Frequency and molecular basis of CD36 deficiency in Xinjiang, China

Zhongguo shuxue zazhi
[Objective] To investigate the distribution characteristics of CD36 antigen in healthy individuals in Xinjiang, China and analyze the molecular mechanisms underlying CD36 deficiency.
QIU Jin, LI Fei, LI Qiang, WANG Rubin, Si Kan De'er·Ai Bai Du'la, LIU Jing, CHEN Wei   +6 more
doaj   +1 more source

Genome sequencing: the third generation [PDF]

Nature, 2009
openaire   +1 more source

nTChap: an accurate method for polyploid haplotype reconstruction

BMC Genomics
Haplotypes of polyploid organisms provide important insights into polyploid evolution and advanced breeding strategies. Significant challenges remain in polyploid haplotype phasing, including the great number of haplotype copies and the presence of ...
Yun Gao, Junhai Qi, Ting Yu, Guojun Li
doaj   +1 more source

Error correction of third-generation sequencing data

, 2019
The aims of this thesis are part of the vast problematic of high-throughput sequencing data analysis. More specifically, this thesis deals with long reads from third-generation sequencing technologies. The aspects tackled in this topic mainly focus on error correction, and on its impact on downstream analyses such a de novo assembly.
openaire   +1 more source