[HTML][HTML] Application and challenge of 3rd generation sequencing for clinical bacterial studies

M Ben Khedher, K Ghedira, JM Rolain… - International Journal of …, 2022 - mdpi.com
Over the past 25 years, the powerful combination of genome sequencing and bioinformatics
analysis has played a crucial role in interpreting information encoded in bacterial genomes …

[HTML][HTML] Analyzing modern biomolecules: the revolution of nucleic-acid sequencing–Review

G Dorado, S Gálvez, TE Rosales, VF Vásquez… - Biomolecules, 2021 - mdpi.com
Recent developments have revolutionized the study of biomolecules. Among them are
molecular markers, amplification and sequencing of nucleic acids. The latter is classified into …

[HTML][HTML] Nanopore sequencing for de novo bacterial genome assembly and search for single-nucleotide polymorphism

MG Khrenova, TV Panova, VA Rodin… - International Journal of …, 2022 - mdpi.com
Nanopore sequencing (ONT) is a new and rapidly developing method for determining
nucleotide sequences in DNA and RNA. It serves the ability to obtain long reads of …

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

UK Stoltze, J Foss-Skiftesvik… - Neuro …, 2023 - academic.oup.com
Background The etiology of central nervous system (CNS) tumors in children is largely
unknown and population-based studies of genetic predisposition are lacking. Methods In …

[HTML][HTML] Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing

T Maroilley, X Li, M Oldach, F Jean, SJ Stasiuk… - Scientific Reports, 2021 - nature.com
Genomic rearrangements cause congenital disorders, cancer, and complex diseases in
human. Yet, they are still understudied in rare diseases because their detection is …

[HTML][HTML] Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

H Akter, MM Rahman, S Sarker, M Basiruzzaman… - Frontiers in …, 2023 - frontiersin.org
Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of
neurodevelopmental disorders (NDD) among children. In this study, we aim to identify …

[HTML][HTML] 高通量测序技术在肉类掺假检测中的应用进展

甘永琦, 卢曼曼, 赖青鸟, 朱斌 - 生物工程学报, 2022 - cjb.ijournals.cn
肉类掺假现象普遍存在, 导致严重的公共卫生风险和侵犯宗教信仰行为. 快速, 有效,
准确和可靠的检测技术是有效监管肉类掺假的关键手段. 近年来, 基于高通量测序的DNA …

[HTML][HTML] Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma

Z Zhuo, W Rong, H Li, Y Li, X Luo, Y Liu, X Tang… - NPJ Genomic …, 2021 - nature.com
The integration of HBV DNA into the human genome can disrupt its structure in
hepatocellular carcinoma (HCC), but the complexity of HBV genomic integration remains …

[HTML][HTML] Potential clinical applications of advanced genomic analysis in cerebral palsy

SA Lewis, A Ruttenberg, T Iyiyol, N Kong, SC Jin… - …, 2024 - thelancet.com
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

WT Harvey, P Ebert, J Ebler, PA Audano… - Genome …, 2023 - genome.cshlp.org
Advances in long-read sequencing (LRS) technologies continue to make whole-genome
sequencing more complete, affordable, and accurate. LRS provides significant advantages …