ZRT1 harbors an excess of nonsynonymous polymorphism and shows evidence of balancing selection in Saccharomyces cerevisiae [PDF]
arXiv, 2012 Estimates of the fraction of nucleotide substitutions driven by positive selection vary widely across different species. Accounting for different estimates of positive selection has been difficult, in part because selection on polymorphism within a species is known to obscure a signal of positive selection between species.
Engle, Elizabeth K., Fay, Justin C.
arxiv +5 more sources
Biomolecules, 2021 One of the treatment strategies for Alzheimer’s disease (AD) is based on the use of pharmacological agents capable of binding to beta-amyloid (Aβ) and blocking its aggregation in the brain.
Yurii A. Zolotarev +9 more
doaj +1 more source
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]
Genomics & Informatics, 2012 In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim +2 more
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Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]
Genomics & Informatics, 2012 We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj +1 more source
Reflections on the US FDA's Warning on Direct-to-Consumer Genetic Testing [PDF]
Genomics & Informatics, 2014 In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device.
Seon-Hee Yim, Yeun-Jun Chung
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 +3 more
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Frontiers in Molecular Biosciences, 2021 Several genome-wide association studies (GWAS) have been carried out with late-onset Alzheimer’s disease (LOAD), mainly in European and Asian populations. Different polymorphisms were associated, but several of them without a functional explanation. GWAS
Gabriela Canalli Kretzschmar +7 more
doaj +1 more source
Introduction to International Ethical Standards Related to Genetics and Genomics [PDF]
Genomics & Informatics, 2013 The rapid advances in genetic knowledge and technology raise various, sometimes unprecedented, ethical dilemmas in the scientific community as well as the public realm.
Seon-Hee Yim, Yeun-Jun Chung
doaj +1 more source
Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on -statistics [PDF]
Genomics & Informatics, 2012 Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered.
Hae-Hiang Song +3 more
doaj +1 more source
Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue [PDF]
Genomics & Informatics, 2017 Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity.
Jieun Lee +5 more
doaj +1 more source