ZCall: a rare variant caller for array-based genotyping: genetics and population analysis.
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ABSTRACT:
SUBMITTER: Goldstein JI
PROVIDER: S-EPMC3463112 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Publications
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Goldstein Jacqueline I JI Crenshaw Andrew A Carey Jason J Grant George B GB Maguire Jared J Fromer Menachem M O'Dushlaine Colm C Moran Jennifer L JL Chambert Kimberly K Stevens Christine C Sklar Pamela P Hultman Christina M CM Purcell Shaun S McCarroll Steven A SA Sullivan Patrick F PF Daly Mark J MJ Neale Benjamin M BM
Bioinformatics (Oxford, England) 20120727 19
<h4>Summary</h4>zCall is a variant caller specifically designed for calling rare single-nucleotide polymorphisms from array-based technology. This caller is implemented as a post-processing step after a default calling algorithm has been applied. The algorithm uses the intensity profile of the common allele homozygote cluster to define the location of the other two genotype clusters. We demonstrate improved detection of rare alleles when applying zCall to samples that have both Illumina Infinium ...[more]
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