Copy number variants, diseases and gene expression
نویسندگان
چکیده
منابع مشابه
Copy number variants, diseases and gene expression.
Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using bioinformatics or hybridization-based methods. These...
متن کاملCopy number variants and pharmacogenomics.
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...
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objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
متن کاملHaploid transcriptome analysis reveals allelelic gene expression variants, co-expressed gene groups, and linkages between expression and copy number variation
Background Genetic variation can cause changes in gene expression (mRNA abundance) among individuals. This so-called heritable variation in gene expression is affected by genetic variants that are co-segregating with the gene locus (local/cis effects) and/or segregating independently from it (distant/trans effects). Genetic variation in gene expression can be measured to estimate the extant of ...
متن کاملA Hierarchical Bayesian Model for Inference of Copy Number Variants and Their Association to Gene Expression.
A number of statistical models have been successfully developed for the analysis of high-throughput data from a single source, but few methods are available for integrating data from different sources. Here we focus on integrating gene expression levels with comparative genomic hybridization (CGH) array measurements collected on the same subjects. We specify a measurement error model that relat...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddp011