Journal of Infection in Developing Countries, 2023 Introduction: Systematic evaluation of the diagnostic value of next generation sequencing (NGS) in sepsis etiology. Methodology: We conducted a systematic search on four databases (Web of Science, Cochrane, PubMed, and Embase) and compiled diagnostic ...
Dong Li +6 more
doaj +1 more source
A High-Throughput Method for Illumina RNA-Seq Library Preparation. [PDF]
, 2012 With the introduction of cost effective, rapid, and superior quality next generation sequencing techniques, gene expression analysis has become viable for labs conducting small projects as well as large-scale gene expression analysis experiments. However,
Daniel H Chitwood +8 more
core +2 more sources
Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]
Клиническая практика, 2021 Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov +8 more
doaj +1 more source
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
, 2015 Genetic variations predispose individuals to hereditary diseases, play important role in the development of complex diseases, and impact drug metabolism. The full information about the DNA variations in the genome of an individual is given by haplotypes,
Ahn, Soyeon, Vikalo, Haris
core +3 more sources
High‐throughput capture of nucleotide sequence polymorphisms in three Brassica species (Brassicaceae) using DNA microarrays [PDF]
American Journal of Botany, 2012 • Premise of the study: To capture molecular markers that are applicable to environmental risk assessment of genetically modified oilseed rape, and to streamline their development, we screened variations in nucleotide sequences of three Brassica species by DNA microarray analysis.• Methods and Results: Using the Affymetrix GeneChip Arabidopsis ATH1 ...
Toru, Nishizawa +6 more
openaire +2 more sources
Clinical features of Streptococcus intermedius infection in children: a case series study
Frontiers in Microbiology, 2023 IntroductionStreptococcus intermedius is an opportunistic pathogen associated with prolonged hospital stays and high mortality rates in adults. However, little is currently known about the clinical features of Streptococcus intermedius infection in ...
Zhufei Xu +5 more
doaj +1 more source
Wheat rusts never sleep but neither do sequencers: will pathogenomics transform the way plant diseases are managed? [PDF]
, 2015 Field pathogenomics adds highly informative data to surveillance surveys by enabling rapid evaluation of pathogen variability, population structure and host ...
Derevnina, Lida, Michelmore, Richard W
core +2 more sources
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Nucleic Acids Research, 2010 High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar +1 more source
Medical Laboratory Journal, 2022 Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in
fatemeh asadi +3 more
doaj
QQ-SNV: single nucleotide variant detection at low frequency by comparing the quality quantiles [PDF]
, 2015 Background: Next generation sequencing enables studying heterogeneous populations of viral infections. When the sequencing is done at high coverage depth ("deep sequencing"), low frequency variants can be detected.
Aerssens, Jeroen +7 more
core +4 more sources