Scientific Publications

zCall: A Rare Variant Caller for Array-based Genotyping.

Publication TypeJournal Article
AuthorsGoldstein, JI, Crenshaw A., Carey J., Grant G., Maguire J., Fromer M., O'Dushlaine C., Moran JL, Chambert K., Stevens C., Swedish Schizophrenia Consortium, ARRA Autism Sequencing Consortium, Sklar P., Hultman CM, Purcell S., McCarroll S., Sullivan PF, Daly M. J., and Neale BM
AbstractSUMMARY: zCall is a variant caller specifically designed for calling rare single nucleotide polymorphisms (SNPs) 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 is available at Bioinformatics online.
Year of Publication2012
JournalBioinformatics (Oxford, England)
Date Published (YYYY/MM/DD)2012/07/27
ISSN Number1367-4803
DOI10.1093/bioinformatics/bts479
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/22843986?dopt=Abstract