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ZCall: a Rare Variant Caller for Array-based Genotyping: Genetics and Population Analysis

Overview
Journal Bioinformatics
Publisher Oxford University Press
Specialty Biology
Date 2012 Jul 31
PMID 22843986
Citations 130
Authors
Jacqueline I Goldstein
Andrew Crenshaw
Jason Carey
George B Grant
Jared Maguire
Menachem Fromer
Colm ODushlaine
Jennifer L Moran
Kimberly Chambert
Christine Stevens
Pamela Sklar
Christina M Hultman
Shaun Purcell
Steven A McCarroll
Patrick F Sullivan
Mark J Daly
Benjamin M Neale
Affiliations
Soon will be listed here.
Abstract

Summary: 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 HumanExome BeadChip and exome sequencing data available.

Availability: http://atguweb.mgh.harvard.edu/apps/zcall.

Contact: bneale@broadinstitute.org

Supplementary Information: Supplementary data are available at Bioinformatics online.

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