Statistical tests for the detection of single nucleotide polymorphisms using DNA pooling

An important problem in genetics is detecting single nucleotide polymorphisms (SNPs), sites along the genome at which a population shows variation. The focus is on the detection of rare variants. Pooling individuals allows us to increase the probability that a rare variant appears in the sample. However, as the pool size increases, the mean number of reads from an individual decreases, making it harder to distinguish reads of a rare variant from errors. This paper compares three statistical tests for detecting SNPs using data from pooled DNA samples.