Results 61 to 70 of about 149,249 (267)

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]

Genomics & 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

Additional file 3 of Correcting nucleotide-specific biases in high-throughput sequencing data

, 2017
Figure S2. ChIP-seq and DNase-seq coverage in a super enhancer region (Hnisz D, Abraham BJ, Lee TI, et al. Transcriptional super-enhancers connected to cell identity and disease. Cell. 2013;155(4):10.1016/j.cell.2013.09.053). This region is also in a DNase hypersensitivity region.
Wang, Jeremy, Quach, Bryan, Furey, Terrence   +2 more
openaire   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

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

Nature 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, Charlly Kao, Michael V. Gonzalez, Fernanda A. Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon Hakonarson, Kai Wang   +9 more
doaj   +1 more source

DNAscent v2: detecting replication forks in nanopore sequencing data with deep learning

BMC Genomics, 2021
Background Measuring DNA replication dynamics with high throughput and single-molecule resolution is critical for understanding both the basic biology behind how cells replicate their DNA and how DNA replication can be used as a therapeutic target for ...
Michael A. Boemo
doaj   +1 more source

Additional file 2 of Correcting nucleotide-specific biases in high-throughput sequencing data

, 2017
Table S1. Area under curve (AUC) values for the ROC curves representing sensitivity and specificity of footprint detection for several transcription factors. AUC values at increasing false positive rates (FPR) are computed independently for each motif before and after correction.
Wang, Jeremy, Quach, Bryan, Furey, Terrence   +2 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

Annals 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, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

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

Frontiers 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, Ashley A. Hibberd, Bryan Zabel, Rodolphe Barrangou, Buffy Stahl   +4 more
doaj   +1 more source

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source

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

Journal 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, Ahmed Abdulhaq, Ahmed Albarrag, Vinod Kumar Basode, Tsute chen   +4 more
doaj   +1 more source