https://pubmed.ncbi.nlm.nih.gov/24599517/
Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing...
copy number variationevaluationdetectiontoolswhole
https://pubmed.ncbi.nlm.nih.gov/33859130/
Based on the theory of genotype-phenotype correlation with EYA4 mutations in terms of hearing loss and comorbid dilated cardiomyopathy, the region of amino...
copy number variationidentificationnovelcausing
https://www.mdpi.com/2072-6694/13/24/6283
Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural...
copy number variationcomparisontoolsdetection