Results 31 to 40 of about 973,339 (276)

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

open access: yes, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram   +7 more
core   +2 more sources

Genomic Analysis of Rwandan G9P[8] Rotavirus Strains Pre- and Post-RotaTeq® Vaccine Reveals Significant Distinct Sub-Clustering in a Post-Vaccination Cohort

open access: yesViruses, 2023
Although the introduction of rotavirus vaccines has substantially contributed to the reduction in rotavirus morbidity and mortality, concerns persist about the re-emergence of variant strains that might alter vaccine effectiveness in the long term.
Robyn-Lee Potgieter   +11 more
doaj   +1 more source

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications [PDF]

open access: yes, 2013
Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found
De Paepe, Anne, Vanakker, Olivier
core   +4 more sources

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

open access: yes, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella   +10 more
core   +2 more sources

Defining Culture Conditions for the Hidden Nitrite-Oxidizing Bacterium Nitrolancea

open access: yesFrontiers in Microbiology, 2020
Nitrification is a key process for N-removal in engineered and natural environments, but recent findings of novel nitrifying microorganisms with surprising features revealed that our knowledge of this functional guild is still incomplete.
Eva Spieck   +8 more
doaj   +1 more source

Neuroinflammation regulates the balance between hippocampal neuron death and neurogenesis in an ex vivo model of thiamine deficiency

open access: yesJournal of Neuroinflammation, 2022
Background Thiamine (vitamin B1) is a cofactor for enzymes of central energy metabolism and its deficiency (TD) impairs oxidative phosphorylation, increases oxidative stress, and activates inflammatory processes that can lead to neurodegeneration ...
Larissa M. G. Cassiano   +4 more
doaj   +1 more source

The Evolution of Post-Vaccine G8P[4] Group a Rotavirus Strains in Rwanda; Notable Variance at the Neutralization Epitope Sites

open access: yesPathogens, 2023
Africa has a high level of genetic diversity of rotavirus strains, which is suggested to be a possible reason contributing to the suboptimal effectiveness of rotavirus vaccines in this region.
Peter N. Mwangi   +13 more
doaj   +1 more source

Base calling for high-throughput short-read sequencing: dynamic programming solutions [PDF]

open access: yes, 2013
Shreepriya Das and Haris Vikalo are with the Electrical and Computer Engineering Department, The University of Texas at Austin, Austin, Texas 78712, USABackground: Next-generation DNA sequencing platforms are capable of generating millions of reads in ...
Das, Shreepriya, Vikalo, Haris
core   +3 more sources

Clustering and Alignment of Polymorphic Sequences for HLA-DRB1 Genotyping [PDF]

open access: yes, 2013
Located on Chromosome 6p21, classical human leukocyte antigen genes are highly polymorphic. HLA alleles associate with a variety of phenotypes, such as narcolepsy, autoimmunity, as well as immunologic response to infectious disease.
A McKenna   +35 more
core   +3 more sources

Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells

open access: yesScientific Reports, 2022
SCAs are autosomal dominant neurodegenerative disorders caused by a gain-of-function protein with toxic activities, containing an expanded polyQ tract in the coding region.
Mariangela Pappadà   +14 more
doaj   +1 more source

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