Aneuploidy detection by low-pass whole-genome sequencing on the Ion PGM™ System

Aneuploidy detection by low-pass whole-genome sequencing on the Ion PGM™ System

 

Key findings

  • The Ion PGM™ System minimizes the high cost and complexity of next-generation sequencing and, with Ion Reporter™ Software, allows the rapid ≤10 hour analysis of aneuploidies from research samples with extremely low initial input DNA amounts—even from a single cell.
  • Using a control set of 10 samples with known chromosomal aberrations, 100% of the copy number changes were found, ranging from gains or losses of whole chromosomes to subchromosomal alterations tens of megabases (Mb) in size.
  • Ion Reporter™ Software facilitates user-defined aneuploidy detection, with three sensitivity options, so that copy number analysis workflows can be tuned to achieve desired levels of sensitivity and specificity.

 

View or download the application note below.

 

Return to the Aneuploidy space to learn more.