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.
Copy number variations (CNVs) refer to a deletion or duplication of DNA segments that are typically larger than 1 KB in size. Genomic regions involved in CNVs may be “junk” and these CNVs were ...
Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results