NQuire: a statistical framework for ploidy estimation using next generation sequencing.

ABSTRACT:

Background

Intraspecific variation in ploidy occurs in a wide range of species including pathogenic and nonpathogenic eukaryotes such as yeasts and oomycetes. Ploidy can be inferred indirectly - without measuring DNA content - from experiments using next-generation sequencing (NGS). We present nQuire, a statistical framework that distinguishes between diploids, triploids and tetraploids using NGS. The command-line tool models the distribution of base frequencies at variable sites using a Gaussian Mixture Model, and uses maximum likelihood to select the most plausible ploidy model. nQuire handles large genomes at high coverage efficiently and uses standard input file formats.

Results

We demonstrate the utility of nQuire analyzing individual samples of the pathogenic oomycete

SUBMITTER: Weiß CL 

PROVIDER: S-EPMC5885312 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature