DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing.

ABSTRACT:

Background

DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.

Results

We developed a sequencing-based assay of nuclear, mitochondrial, and telomeric DNA copy number that draws on the unbiased nature of next-generation sequencing and incorporates techniques developed for RNA expression profiling. To demonstrate this platform, we assayed UMC-11 cells using 5 million 33 nt reads and found tremendous copy number variation, including regions of single and homogeneous deletions and amplifications to 29 copies; 5 times more mitochondria and 4 times less telomeric sequence than a pool of non-diseased, blood-derived DNA; and that UMC-11 w

SUBMITTER: Castle JC 

PROVIDER: S-EPMC2867831 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature