Results 21 to 30 of about 6,146,275 (314)
Best Practices for Evaluating Single Nucleotide Variant Calling Methods for Microbial Genomics
Frontiers in Genetics, 2015 Innovations in sequencing technologies have allowed biologists to make incredible advances in understanding biological systems. As experience grows, researchers increasingly recognize that analyzing the wealth of data provided by these new sequencing ...
Nathan eOlson +11 more
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CardiogeneticsIntroduction: This paper explores the potential influence of a single nucleotide variant in the ANK-2 gene on COVID-19 myocarditis-related ventricular tachycardia.
Erin Haase +4 more
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Cell Reports, 2017 Summary: A number of mitochondrial diseases arise from single-nucleotide variant (SNV) accumulation in multiple mitochondria. Here, we present a method for identification of variants present at the single-mitochondrion level in individual mouse and human
Jacqueline Morris +16 more
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Comparison of sequencing platforms for single nucleotide variant calls in a human sample. [PDF]
PLoS ONE, 2013 Next-generation sequencings platforms coupled with advanced bioinformatic tools enable re-sequencing of the human genome at high-speed and large cost savings.
Aakrosh Ratan +5 more
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Using intrahost single nucleotide variant data to predict SARS-CoV-2 detection cycle threshold values. [PDF]
PLoS ONEOver the last four years, each successive wave of the COVID-19 pandemic has been caused by variants with mutations that improve the transmissibility of the virus. Despite this, we still lack tools for predicting clinically important features of the virus.
Lea Duesterwald +6 more
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SNVPhyl: a single nucleotide variant phylogenomics pipeline for microbial genomic epidemiology
Microbial Genomics, 2016 Motivation The recent widespread application of whole-genome sequencing (WGS) for microbial disease investigations has spurred the development of new bioinformatics tools, including a notable proliferation of phylogenomics pipelines designed for ...
A. Petkau +17 more
semanticscholar +3 more sources
Computational and Structural Biotechnology Journal, 2014 The number of blood group systems, currently 35, has increased in the recent years as genetic variations defining red cell antigens continue to be discovered.
Catherine A. Hyland, Robert L Flower
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The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19. [PDF]
Int J Mol Sci, 2023 Valencia-Pérez Rea D +7 more
europepmc +2 more sources
Sources of Cancer Neoantigens beyond Single-Nucleotide Variants
International Journal of Molecular Sciences, 2022 The success of checkpoint blockade therapy against cancer has unequivocally shown that cancer cells can be effectively recognized by the immune system and eliminated. However, the identity of the cancer antigens that elicit protective immunity remains to be fully explored.
Aude-Hélène Capietto +2 more
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A Review of Genetic Evidence of Widespread Depletion of Cheetah Gene Diversity and the Need to Conserve the Surviving Populations [PDF]
محیط زیست و توسعه فرابخشی, 2021 Cheetah is the only species from the Acinonyx subfamily and genus whose global population trend has been declining. This species is known as a species with a low genetic variation that has resulted from bottlenecks about 10,000 and 12,000 years ago.
Maryam Mahmoudiasl +2 more
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