Understanding how genetic variation contributes to human disease has become a major thrust of modern science. For example, considerable effort currently goes into genomewide association studies, which ...

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...

There are three key aspects to genetic disease associations: comprehensive variant discovery, accurate allele-frequency determination, and an understanding of the pattern of normal variation and its ...

Targeted resequencing of DNA allows researchers to focus on genes of interest for cost-effective analysis of genetic variations. Typically, to analyze single nucleotide mutations and copy number ...

We learn that we inherit two copies of every gene, one from each of our parents, but the story is a bit more complex. Some parts of the genome may be duplicated, or deleted, in some people. The number ...

Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read ...

DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods ...

Common genetic variants may underlie autism spectrum disorder and schizophrenia across human populations, according to a new study. In line with previous studies in Caucasians, the researchers found ...

Source: By Courtesy: National Human Genome Research Institute via Wikimedia Commons Anyone who uses a digital device of any kind will probably have noticed how easy it is accidently to duplicate—or ...

A breakthrough method for analyzing the DNA of centuries-old plant samples has given scientists an edge in combating the spread of invasive plants. Researchers from Monash University and the ...