Results 31 to 40 of about 6,146,275 (314)

Prevalence of a Single-Nucleotide Variant of SARS-CoV-2 in Korea and Its Impact on the Diagnostic Sensitivity of the Xpert Xpress SARS-CoV-2 Assay

Annals of Laboratory Medicine, 2022
The sensitivity of molecular diagnostics could be affected by nucleotide variants in pathogen genes, and the sites affected by such variants should be monitored.
K. Hong, J. In, Jaehyeon Lee, S. Y. Kim, Kyoung-Ah Lee, Seunghyun Kim, Yeoungim An, Donggeun Lee, H. Sung, Jae-Seok Kim, Hyukmin Lee   +10 more
semanticscholar   +1 more source

Dissecting Molecular Heterogeneity of Circulating Tumor Cells (CTCs) from Metastatic Breast Cancer Patients through Copy Number Aberration (CNA) and Single Nucleotide Variant (SNV) Single Cell Analysis

Cancers, 2022
Simple Summary Circulating tumor cells (CTCs) are rare cells found in the bloodstream of oncologic patients with a central role in the metastatic spread.
T. Rossi, D. Angeli, M. Tebaldi, P. Fici, E. Rossi, A. Rocca, M. Palleschi, R. Maltoni, G. Martinelli, F. Fabbri, G. Gallerani   +10 more
semanticscholar   +1 more source

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

Current Issues in Molecular Biology, 2023
Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals.
Enrique Garcia-Gaona, Alhelí García-Gregorio, Camila García-Jiménez, Mildred Alejandra López-Olaiz, Paola Mendoza-Ramírez, Daniel Fernandez-Guzman, Rolando Alberto Pillado-Sánchez, Axel David Soto-Pacheco, Laura Yareni-Zuñiga, María Guadalupe Sánchez-Parada, Ana Elizabeth González-Santiago, Luis Miguel Román-Pintos, Rolando Castañeda-Arellano, Luis Daniel Hernández-Ortega, Arieh Roldán Mercado-Sesma, Felipe de Jesús Orozco-Luna, Carlos Villa-Angulo, Rafael Villa-Angulo, Raúl C. Baptista-Rosas   +18 more
openaire   +3 more sources

Establishing a novel colorectal cancer predictive model based on unique gut microbial single nucleotide variant markers

Gut microbes, 2021
Current metagenomic species-based colorectal cancer (CRC) microbial biomarkers may confuse diagnosis because the genetic content of different microbial strains, even those belonging to the same species, may differ from 5% to 30%.
Chenchen Ma, Kaining Chen, Yuanyuan Wang, Chaoping Cen, Q. Zhai, Jiachao Zhang   +5 more
semanticscholar   +1 more source

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

Nature Communications, 2021
Many single nucleotide variants (SNVs) associated with human traits and genetic diseases are thought to alter the activity of existing regulatory elements.
Yavor K. Bozhilov, D. Downes, Jelena M. Telenius, A. Marieke Oudelaar, Emmanuel N. Olivier, J. Mountford, J. Hughes, R. Gibbons, D. Higgs   +8 more
semanticscholar   +1 more source

Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments. [PDF]

PLoS ONE, 2015
Nucleotide alterations detected by next generation sequencing are not always true biological changes but could represent sequencing errors. Even highly accurate methods can yield substantial error rates when applied to millions of nucleotides.
Yuan Qi, Xiuping Liu, Chang-Gong Liu, Bailing Wang, Kenneth R Hess, W Fraser Symmans, Weiwei Shi, Lajos Pusztai   +7 more
doaj   +1 more source

Single Nucleotide Variants in the TLR1, TLR2 and TLR6 Genes: A Case–Control Study in a Colombian Population

Tropical Medicine and Infectious Disease, 2023
Background: Single nucleotide variants in toll-like receptor genes play a crucial role in leprosy susceptibility or resistance. Methods: With an epidemiology case–control study, associations between SNVs rs5743618 in TLR1, rs5743708 in TLR2, and ...
Luz D. Gutierrez-Castañeda, Carmen R. Acosta, Mónica A. Bustos, Diana K. García, Diana P. Bohada, Raúl Rodríguez, Martha Inirida Guerrero   +6 more
doaj   +1 more source

Using SomaticSniper to Detect Somatic Single Nucleotide Variants [PDF]

Current Protocols in Bioinformatics, 2014
AbstractDetecting somatic single nucleotide variants (SNVs) is an essential component of cancer research with next‐generation sequencing data. This unit describes how to run the SomaticSniper somatic SNV detector and then filter the output to eliminate most false positives.
David E, Larson, Travis E, Abbott, Richard K, Wilson   +2 more
openaire   +2 more sources

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication

BMC Genomics, 2020
Background Advances in genome technology have simplified a new comprehension of the genetic and historical processes crucial to rapid phenotypic evolution under domestication. To get new insight into the genetic basis of the dog domestication process, we
Zeinab Amiri Ghanatsaman, Guo-Dong Wang, Hojjat Asadollahpour Nanaei, Masood Asadi Fozi, Min-Sheng Peng, Ali Esmailizadeh, Ya-Ping Zhang   +6 more
doaj   +1 more source

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Frontiers in Genetics, 2023
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single ...
Nadja Louw, Nadia Carstens, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium   +4 more
doaj   +1 more source