HIGHLIGHTS
- who: Valentina La Cognata and Sebastiano Cavallaro from the Institute for Biomedical Research and Innovation, National Research Council, Catania, Italy have published the research: Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases, in the Journal: Biomedicines 2022, 10, 1836. of /2022/
- what: In Figures 1 and 2, the authors show examples of CNVs detection by using tNGS with two panels the authors have previously used to scan the coding regions of genes implicated in LSDs .
- how: Deep sequencing data were analyzed with the user-friendly web-application Ion . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.