Medical Xpress

Using exome sequencing to analyze copy number variants can increase diagnostic yield

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.
Nature

Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases

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 ...
Nature

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women

Non-invasive prenatal testing (NIPT) is a screening method that detects fetal chromosomal trisomies from cell-free DNA in maternal blood. Because NIPT uses whole-genome sequencing with next-generation ...
GEN

Efficiency, Sustainability Drive Thermo Fisher’s New Microarray Data Analysis Solution

There are two key things to know about the new Applied Biosystems™ SwiftArrayStudio™ Microarray Analyzer from Thermo Fisher Scientific, said Ravi Gupta, vice president and general manager of Thermo ...