STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods.

ABSTRACT: The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis. In these applications, target cells are extremely rare and fragile in peripheral circulation, which makes the genetic analysis very challenging. To overcome these challenges, cell stabilization and unbiased whole genome amplification are required. This study investigates the performance of four WGA methods on single or a limited number of cells after 24 hour of Streck Cell-Free DNA BCT preservation. The suitability of the DNA, amplified with Ampli1, DOPlify, PicoPLEX and REPLI-g, was assessed for both short tandem repeat (STR) profiling and copy number variant (CNV) analysis after shallow whole genome massively parallel sequ

SUBMITTER: Vander Plaetsen AS 

PROVIDER: S-EPMC5719346 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature