HIGHLIGHTS
- who: Erika Souche from the (UNIVERSITY) have published the paper: Recommendations for whole genome sequencing in diagnostics for rare diseases, in the Journal: (JOURNAL) of 16/05/2022
SUMMARY
EuroGentest is a European initiative, aiming to promoting accurate, reliable and high-quality genetic diagnostics across Europe. In 2016, EuroGentest published guidelines, endorsed by the ESHG, for diagnostic Next Generation Sequencing (NGS) applications for rare genetic diseases. Other Structural Variants (SVs) like inversions or variants in regulatory or intronic regions are usually missed in WES diagnostics. WGS in principle allows the detection of disease . . .
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.