Results 41 to 50 of about 6,146,275 (314)

VCF2Networks: applying genotype networks to single-nucleotide variants data [PDF]

open access: yesBioinformatics, 2014
Abstract Summary: A wealth of large-scale genome sequencing projects opens the doors to new approaches to study the relationship between genotype and phenotype. One such opportunity is the possibility to apply genotype networks analysis to population genetics data. Genotype networks are a representation of the set of genotypes associated
Giovanni Marco Dall'Olio   +4 more
openaire   +8 more sources

A rare single nucleotide variant in Pm5e confers powdery mildew resistance in common wheat.

open access: yesNew Phytologist, 2020
Powdery mildew poses severe threats to wheat production. The most sustainable way to control this disease is through planting resistant cultivars. We report the map-based cloning of the powdery mildew resistance allele Pm5e from a Chinese wheat landrace.
Jing-Zhong Xie   +24 more
semanticscholar   +1 more source

Investigation of Naturally Occurring Single-Nucleotide Variants in Human TAAR1 [PDF]

open access: yesFrontiers in Pharmacology, 2017
Activation of trace amine-associated receptor 1 (TAAR1) in endocrine pancreas is involved in weight regulation and glucose homeostasis. The purpose of this study was the identification and characterization of potential TAAR1 variants in patients with overweight/obesity and disturbed glucose homeostasis. Screening for TAAR1 variants was performed in 314
Jessica Mühlhaus   +16 more
openaire   +4 more sources

SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants [PDF]

open access: yesBioinformatics, 2014
Mutational signatures are patterns in the occurrence of somatic single nucleotide variants (SNVs) that can reflect underlying mutational processes. The SomaticSignatures package provides flexible, interoperable, and easy-to-use tools that identify such signatures in cancer sequencing data.
Gehring, Julian S.   +3 more
openaire   +3 more sources

Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer

open access: yesThe Turkish Journal of Gastroenterology, 2022
Background: Colorectal cancer is the second cause of death by cancer around the world. Sporadic colorectal cancer is the most frequent (75%), and it is produced by the interaction of environmental, epigenetic, and genetic factors.
Carlos Rogelio Alvizo-Rodríguez   +10 more
doaj   +1 more source

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

open access: yesGenome 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   +3 more
doaj   +1 more source

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

open access: yesGenomics & 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   +3 more
doaj   +1 more source

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

open access: yesPeerJ, 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   +6 more
doaj   +2 more sources

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

open access: yes, 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   +23 more
core   +1 more source

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

open access: yesFrontiers 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   +12 more
doaj   +1 more source

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