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Comparison of genotype clustering tools with rare variants.

Authors
Type
Published Article
Journal
BMC Bioinformatics
1471-2105
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Volume
15
Pages
52–52
Identifiers
DOI: 10.1186/1471-2105-15-52
PMID: 24559245
Source
Medline

Abstract

The GenoSNP clustering tool could not be run straight "out of the box" with the HumanExome BeadChip, as modification of hard coded parameters was necessary to achieve optimal performance. Overall, GenCall marginally outperformed the other tools for the HumanExome BeadChip. The use of experimental replicates provided a valuable quality control tool for genotyping projects with rare variants.

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