Copy number variations (CNVs) are a pervasive form of genomic variation that entail duplications or deletions of DNA segments ranging from kilobases to megabases. In animal genomes, CNVs contribute ...
Genomic analysis of cancer cells revealed comprehensive mechanism of tumorigenesis in human patients. Among the abnormalities discovered so far, CNVs accounted for a great portion of all the ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
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