Results 31 to 40 of about 5,783,756 (283)

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Genome Biology, 2021
Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive ...
Medhat Mahmoud, Harshavardhan Doddapaneni, Winston Timp, Fritz J. Sedlazeck   +3 more
doaj   +1 more source

MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant [PDF]

Genomics & Informatics, 2014
Next-generation sequencing (NGS) is widely used to identify the causative mutations underlying diverse human diseases, including cancers, which can be useful for discovering the diagnostic and therapeutic targets. Currently, a number of single-nucleotide
In-Pyo Baek, Yong-Bok Jeong, Seung-Hyun Jung, Yeun-Jun Chung   +3 more
doaj   +1 more source

Functional genetic variants in complement component 7 confer susceptibility to gastric cancer [PDF]

PeerJ, 2022
Background Complement system plays an important role in innate immunity which involved in the changes tumor immune microenvironment by mediating the inflammatory response.
Siyue Wang, Wenqian Hu, Yuning Xie, Hongjiao Wu, Zhenxian Jia, Zhi Zhang, Xuemei Zhang   +6 more
doaj   +2 more sources

Association of arterial stiffness with single nucleotide polymorphism rs1333049 and metabolic risk factors [PDF]

, 2013
The electronic version of this article is the complete one and can be found online at: http://www.cardiab.com/content/12/1/93. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.
Veerapol Kukongviriyapan, Vichai Senthong, Suphawadee Phababpha, Upa Kukongviriyapan, Chatri Settasatian, Pyatat Tatsanavivat, Senggunprai, L, Nantarat Komanasin, Poungrat Pakdeechote, Pakdeechote, P, Komanasin, N, Tatsanavivat, P, Nongnuch Settasatian, Senthong, V, Phongsak Intharaphet, Stephen E Greenwald, Settasatian, C, Intharaphet, P, Kukongviriyapan, V, Kukongviriyapan, U, Phababpha, S, Greenwald, SE, Laddawan Senggunprai, Settasatian, N   +23 more
core   +1 more source

Base Editing in Human Cells to Produce Single-Nucleotide-Variant Clonal Cell Lines. [PDF]

Curr Protoc Mol Biol, 2020
Base-editing technologies enable the introduction of point mutations at targeted genomic sites in mammalian cells, with higher efficiency and precision than traditional genome-editing methods that use DNA double-strand breaks, such as zinc finger ...
Vasquez CA, Cowan QT, Komor AC.
europepmc   +2 more sources

Host- and Species-Dependent Quasispecies Divergence of Severe Acute Respiratory Syndrome Coronavirus-2 in Non-human Primate Models

Frontiers in Microbiology, 2021
Recently, newly emerging variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been continuously reported worldwide. However, the precise evaluation of SARS-CoV-2 microevolution in host is very limited because the exact genetic ...
Eun-Ha Hwang, Eun-Ha Hwang, Hoyin Chung, Hoyin Chung, Green Kim, Green Kim, Hanseul Oh, You Jung An, Philyong Kang, Choong-min Ryu, Jong-Hwan Park, Jungjoo Hong, Bon-Sang Koo   +12 more
doaj   +1 more source

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells [PDF]

Nature Methods, 2017
Mutation analysis in single-cell genomes is prone to artifacts associated with cell lysis and whole-genome amplification. Here we addressed these issues by developing single-cell multiple displacement amplification (SCMDA) and a general-purpose single-cell-variant caller, SCcaller (https://github.com/biosinodx/SCcaller/).
Dong, Xiao, Zhang, Lei, Milholland, Brandon, Lee, Moonsook, Maslov, Alexander Y., Wang, Tao, Vijg, Jan   +6 more
openaire   +2 more sources

Benchmarking of single nucleotide somatic variant calling [PDF]

, 2017
Cancer, which affects hundreds of thousands of people worldwide every year and costs billions in treatment, is a disease caused by mutations that arise in somatic cell lines and contribute to abnormal and pathological behaviors and growth in cells. These
Derryberry, Dakota Zipporah
core   +1 more source

Genome-wide Segregation of Single Nucleotide and Structural Variants into Single Cancer Cells [PDF]

BMC Genomics, 2017
Abstract We present a new approach for determining comprehensive variant profiles of single cells using a microfluidic amplicon-based strategy. This method can be used to reconstruct the clonal architecture and mutational history of a malignancy using all classes and sizes of single nucleotide and structural variants, providing insights
Easton, John, Gonzalez Pena, Veronica, Yergeau, Donald, Ma, Xiaotu, Gawad, Charles   +4 more
openaire   +3 more sources

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants [PDF]

Human Mutation, 2016
In silico methods for detecting functionally relevant genetic variants are important for identifying genetic markers of human inherited disease. Much research has focused on protein-coding variants since coding regions have well-defined physicochemical and functional properties.
Peterson, Thomas A., Mort, Matthew, Cooper, David Neil, Radivojac, Predrag, Kann, Maricel G., Mooney, Sean D.   +5 more
openaire   +3 more sources