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Statistical tests for the detection of single nucleotide polymorphisms using DNA pooling
Date
2011
Abstract
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.
Supervisor
Description
peer-reviewed
Publisher
Internaitonal Statistical Institute
Citation
Proceedings of the 58th Wrold Statistics Congress of the International Statistical Institute;
Files
ULRR Identifiers
Funding code
Funding Information
Science Foundation Ireland (SFI)