However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments. CNVs cause a significant proportion of genetic disorders.
Landmark Nationwide Trial Shows Genome Sequencing Beats Standard Testing for Developmental Disorders
A nationwide Belgian randomized trial of 567 patients found that genome sequencing diagnosed 39.8 percent of developmental disorder cases, significantly outperforming the standard combination of exome ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results