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Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems [PDF]

open access: yesHuman Genomics
Newborn screening (NBS) is a critical public health initiative aimed at the early detection of congenital disorders. The emergence of next-generation sequencing (NGS) holds the potential to expand the spectrum of diseases detectable at birth. To evaluate
Yifan Yin   +8 more
doaj   +2 more sources

A cost-effectiveness analysis model of actionable genomic alteration testing strategies incorporating different modalities and sizes of next-generation sequencing panels in non-small-cell lung cancer [PDF]

open access: yesTherapeutic Advances in Medical Oncology
Background: Prompt identification of actionable genomic alterations (AGAs) is essential in guiding treatment decisions in newly diagnosed advanced non-small-cell lung cancer (NSCLC). Objectives: We aimed to determine the optimal testing strategy in terms
Yvonne L. E. Ang   +9 more
doaj   +2 more sources

Theoretical study of Pt–Ng and Ng–Pt–Ng (Ng=Ar,Kr,Xe) [PDF]

open access: yesThe Journal of Chemical Physics, 2005
We have investigated the binding of noble-gas (Ng) atoms (Ng=Ar,Kr,Xe) with Pt atom by the ab initio coupled-cluster CCSD(T) method, taking into account the relativistic effects. It is shown that two Ng atoms can bind with Pt atom in linear geometry in the singlet lowest state where the second Ng atom attaches to Pt with the larger binding energy than ...
Yuriko, Ono   +2 more
  +7 more sources

On the Proton-Bound Noble Gas Dimers (Ng-H-Ng)+ and (Ng-H-Ng’)+ (Ng, Ng’ = He-Xe): Relationships between Structure, Stability, and Bonding Character [PDF]

open access: yesMolecules, 2021
The structure, stability, and bonding character of fifteen (Ng-H-Ng)+ and (Ng-H-Ng’)+ (Ng, Ng’ = He-Xe) compounds were explored by theoretical calculations performed at the coupled cluster level of theory. The nature of the stabilizing interactions was, in particular, assayed using a method recently proposed by the authors to classify the chemical ...
Stefano Borocci   +2 more
openaire   +4 more sources

Rhea: a transparent and modular R pipeline for microbial profiling based on 16S rRNA gene amplicons [PDF]

open access: yesPeerJ, 2017
The importance of 16S rRNA gene amplicon profiles for understanding the influence of microbes in a variety of environments coupled with the steep reduction in sequencing costs led to a surge of microbial sequencing projects.
Ilias Lagkouvardos   +3 more
doaj   +2 more sources

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease

open access: yesScientific Reports, 2022
Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the basis of human diseases.
Orr Shomroni   +9 more
doaj   +1 more source

Investigation of metabolic pathways from gut microbiome analyses regarding type 2 diabetes mellitus using artificial neural networks

open access: yesDiscover Artificial Intelligence, 2023
Background Type 2 diabetes mellitus is a prevalent disease that contributes to the development of various health issues, including kidney failure and strokes. As a result, it poses a significant challenge to the worldwide healthcare system. Research into
Julienne Siptroth   +5 more
doaj   +1 more source

Fluorescent amplification for next generation sequencing (FA-NGS) library preparation. [PDF]

open access: yes, 2020
BACKGROUND:Next generation sequencing (NGS) has become a universal practice in modern molecular biology. As the throughput of sequencing experiments increases, the preparation of conventional multiplexed libraries becomes more labor intensive ...
Chiniquy, Jennifer   +3 more
core   +1 more source

Protective effect of notoginsenoside and tanshinone IIA on inflammation-related colorectal cancer mice and the inhibition effect on COX-2 expression

open access: yesDigital Chinese Medicine, 2021
Objective: To explore the preventive effects and possible me-chanisms of action of notoginsenoside (NGS) and tanshinone IIA (TSN) in inflammation-related colorectal cancer (IRCC) in mice.
Cao Wen, Zhou Xiaoqing
doaj   +1 more source

A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative [PDF]

open access: yes, 2016
Recent improvements in next-generation sequencing (NGS) technology have enabled detection of biomarkers in cell-free DNA in blood and may ultimately replace invasive tissue biopsies.
Aberra, Metasebia   +15 more
core   +2 more sources

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