iCall: a genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array
نویسندگان
چکیده
منابع مشابه
iCall: a genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array
MOTIVATION Next-generation genotyping microarrays have been designed with insights from 1000 Genomes Project and whole-exome sequencing studies. These arrays additionally include variants that are typically present at lower frequencies. Determining the genotypes of these variants from hybridization intensities is challenging because there is less support to locate the presence of the minor alle...
متن کاملoptiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants
MOTIVATION Existing microarray genotype-calling algorithms adopt either SNP-by-SNP (SNP-wise) or sample-by-sample (sample-wise) approaches to calling. We have developed a novel genotype-calling algorithm for the Illumina platform, optiCall, that uses both SNP-wise and sample-wise calling to more accurately ascertain genotypes at rare, low-frequency and common variants. RESULTS Using data from...
متن کاملCLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
MOTIVATION Several algorithms exist for detecting copy number variants (CNVs) from human exome sequencing read depth, but previous tools have not been well suited for large population studies on the order of tens or hundreds of thousands of exomes. Their limitations include being difficult to integrate into automated variant-calling pipelines and being ill-suited for detecting common variants. ...
متن کاملA genotype calling algorithm for the Illumina BeadArray platform
MOTIVATION Large-scale genotyping relies on the use of unsupervised automated calling algorithms to assign genotypes to hybridization data. A number of such calling algorithms have been recently established for the Affymetrix GeneChip genotyping technology. Here, we present a fast and accurate genotype calling algorithm for the Illumina BeadArray genotyping platforms. As the technology moves to...
متن کاملGenome analysis CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
Motivation: Several algorithms exist for detecting copy number variants (CNVs) from human exome sequencing read depth, but previous tools have not been well suited for large population studies on the order of tens or hundreds of thousands of exomes. Their limitations include being difficult to integrate into automated variant-calling pipelines and being ill-suited for detecting common variants....
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2014
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/btu107