optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.
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DOI:
10.1093/bioinformatics/bts180
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发表时间:
2012-06-15
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Anderson CA
Anderson CA
中科院分区:
其他
文献类型:
--
作者:
Shah TS;Liu JZ;Floyd JA;Morris JA;Wirth N;Barrett JC;Anderson CA

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动机:现有的微阵列基因型调用算法采用SNP-by-SNP(SNP-wise)或sample-by-sample(sample-wise)方法来调用。我们为Illumina平台开发了一种新的基因型调用算法optiCall,该算法使用SNP和样本调用来更准确地确定罕见,低频和常见变异的基因型。结果如下:使用来自1958年英国出生队列的4537名个体的数据,我们估计由于错误的质量控制失败而导致的SNP丢失到下游分析的比例,以及被错误分类为单态的罕见变异,optiCall仅为1.38%,而Illuminus,GenoSNP和GenCall分别为3.87,7.85和4.09%。我们表明,optiCall准确地捕捉罕见的变异,并可以正确地占SNP的探针强度云从其预期的位置。可用性和实施:optiCall是用C++在UNIX操作系统上实施的,可从http://www.sanger.ac.uk/resources/software/opticall/下载。联系方式:optiCall@sanger.ac.uk
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 4537 individuals from the 1958 British Birth Cohort genotyped on the Immunochip, we estimate the proportion of SNPs lost to downstream analysis due to false quality control failures, and rare variants misclassified as monomorphic, is only 1.38% with optiCall, in comparison to 3.87, 7.85 and 4.09% for Illuminus, GenoSNP and GenCall, respectively. We show that optiCall accurately captures rare variants and can correctly account for SNPs where probe intensity clouds are shifted from their expected positions. Availability and implementation: optiCall is implemented in C++ for use on UNIX operating systems and is available for download at http://www.sanger.ac.uk/resources/software/opticall/. Contact: optiCall@sanger.ac.uk
DOI: 10.1093/bioinformatics/btq280
发表时间: 2010-07-15
期刊: Bioinformatics (Oxford, England)
影响因子: --
作者:
Morris JA;Randall JC;Maller JB;Barrett JC
通讯作者: Barrett JC
DOI: 10.1038/ng.998
发表时间: 2011-11-06
期刊: Nature genetics
影响因子: 30.8
作者:
通讯作者: --
DOI: 10.1038/nature09534
发表时间: 2010-10-28
期刊: NATURE
影响因子: 64.8
作者:
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DOI: 10.1111/j.2517-6161.1977.tb01600.x
发表时间: 1977-01-01
期刊: JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-METHODOLOGICAL
影响因子: --
作者:
DEMPSTER, AP;LAIRD, NM;RUBIN, DB
通讯作者: RUBIN, DB
DOI: 10.1186/ar3204
发表时间: 2011-02-01
影响因子: 4.9
作者:
Cortes A;Brown MA
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