Various approaches have been developed to identify and quantitate copy-number variation. A new, high-resolution approach that already shows promise is digital PCR. As illustrated by many research ...

But measuring CNVs in cells from an individual can be tricky. For a number of years, researchers relied on fluorescently tagged microarray probes that attached to sections of genes; locations where ...

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 ...

Among the 3 methods used across 478 samples included in the study, next-generation sequencing provided the most favorable results. As uptake of next-generation sequencing (NGS) continues across ...