Results 61 to 70 of about 153,654 (268)

Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis [PDF]

open access: yesGenomics & Informatics, 2013
This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis.
Soyoung Park, Youngil Koh, Sung-Soo Yoon
doaj   +1 more source

Generation of large mitochondrial and nuclear nucleotide sequences and phylogenetic analyses using high-throughput short-read datasets for endangered Placostylinae snails of the southwest Pacific

open access: yesMolluscan Research, 2021
Placostylinae are a sub-family of terrestrial land snails endemic to the southwest Pacific. Some species are harvested for food, and others are critically endangered. Here we assemble and characterise complete mitochondrial genomes, as well as three nuclear markers (partial 45S ribosomal cassettes and the histone genes H3 and H4) of five snail species ...
Mathieu Quenu   +3 more
openaire   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin   +12 more
wiley   +1 more source

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

open access: yesNature Communications, 2019
Compared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-
Li Fang   +9 more
doaj   +1 more source

Genotyping by PCR and High-Throughput Sequencing of Commercial Probiotic Products Reveals Composition Biases.

open access: yesFrontiers in Microbiology, 2016
Recent advances in microbiome research have brought renewed focus on beneficial bacteria, many of which are available in food and dietary supplements. Although probiotics have historically been defined as microorganisms that convey health benefits when ...
Wesley Morovic   +4 more
doaj   +1 more source

The use of coded PCR primers enables high-throughput sequencing of multiple homolog amplification products by 454 parallel sequencing. [PDF]

open access: yesPLoS ONE, 2007
The invention of the Genome Sequence 20 DNA Sequencing System (454 parallel sequencing platform) has enabled the rapid and high-volume production of sequence data.
Jonas Binladen   +6 more
doaj   +1 more source

Additional file 1 of Correcting nucleotide-specific biases in high-throughput sequencing data

open access: yes, 2017
Figure S1. GM12878 DNase-seq 5-mer tile covariance matrix. The pairwise correlation is shown between bias values of 5-mer tiles in a 160bp window surrounding the 5â end of aligned reads. The block structure between tiles 0 and 3 indicates correlation between adjacent k-mer frequencies within DNase-seq reads. (PDF 203 kb)
Wang, Jeremy   +2 more
openaire   +1 more source

Laser‐Based Sculpturing of Embedded Ultrathin Metal‐Oxide Nanopores for Enhanced Biomolecular Sensing

open access: yesAdvanced Functional Materials, EarlyView.
Controlled laser‐drilling of embedded HfO2 membranes creates three layer nanopores with Gaussian‐shaped cavities sculptured in the supporting layers. These embedded solid‐state nanopores slow DNA translocation by 12‐fold compared to SiNx pores, enabling high‐resolution, label‐free detection of short DNAs, RNAs, and proteins.
Jostine Joby   +4 more
wiley   +1 more source

An Overview of the Second and Third-Generation of DNA Sequencing Technologies [PDF]

open access: yesJournal of Advanced Biomedical Sciences, 2017
DNA sequence determination is a tremendous human achievement. DNA sequencing includes several methods and technologies in use for determining the order of the nucleotide bases in a molecule of nucleic acid.
Fatemeh Ghorbani Parsa   +1 more
doaj  

Species-level core oral bacteriome identified by 16S rRNA pyrosequencing in a healthy young Arab population

open access: yesJournal of Oral Microbiology, 2016
Background: Reports on the composition of oral bacteriome in Arabs are lacking. In addition, the majority of previous studies on other ethnic groups have been limited by low-resolution taxonomic assignment of next-generation sequencing reads. Furthermore,
Nezar Noor Al-hebshi   +4 more
doaj   +1 more source

Home - About - Disclaimer - Privacy