Results 121 to 130 of about 574,833 (290)

Vitis vinefera L. DNA preparation for third-generation sequencing

open access: yes, 2022
Abstract Several approaches have been proposed to sequence the genome of Vitis vinifera L. (grapevine), utilizing low-resolution second-generation platforms that lead to partial coverage and low-quality reads. Nevertheless, the characterization of the grapevine genetic resources could be better addressed through extensive and high-resolution ...
Androniki C Bibi   +6 more
openaire   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena   +15 more
wiley   +1 more source

SMaSH: A Benchmarking Toolkit for Human Genome Variant Calling

open access: yes, 2014
Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human
Bresler, Ma'ayan   +9 more
core   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

open access: yesMolecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata   +10 more
wiley   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

open access: yesMolecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel   +12 more
wiley   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

open access: yesFEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon   +6 more
wiley   +1 more source

A Composite Genome Approach to Identify Phylogenetically Informative Data from Next-Generation Sequencing

open access: yes, 2014
We have developed a novel method to rapidly obtain homologous genomic data for phylogenetics directly from next-generation sequencing reads without the use of a reference genome.
Cartwright, Reed A.   +3 more
core   +1 more source

Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes

open access: yesFEBS Open Bio, EarlyView.
We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde   +3 more
wiley   +1 more source

Modernizing Thalassemia Detection: Insights from Third Generation Sequencing

open access: yesNational Journal of Health Sciences
Abstract: Thalassemia, an inherited hematologic disorder, places a considerable societal and economic burden. Efficient prevention and management of this ailment necessitates the implementation of comprehensive screening strategies. Third–generation sequencing (TGS), an innovating technology, shows significant potential for applications in screening ...
Shahzad Ali Jiskani   +5 more
openaire   +1 more source

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

open access: yesInfectious 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   +18 more
doaj   +1 more source

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