Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population
Joint Authors
Kim, Young Jin
Oh, Ji Hee
Park, Tae-Joon
Heo, Lyong
Moon, Sanghoon
Han, Sohee
Kim, Bong-Jo
Source
International Journal of Genomics
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-12-27
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Exome-based genotyping arrays are cost-effective and have recently been used as alternative platforms to whole-exome sequencing.
However, the automated clustering algorithm in an exome array has a genotype calling problem in accuracy for identifying rare and low-frequency variants.
To address these shortcomings, we present a practical approach for accurate genotype calling using the Illumina Infinium HumanExome BeadChip.
We present comparison results and a statistical summary of our genotype data sets.
Our data set comprises 14,647 Korean samples.
To solve the limitation of automated clustering, we performed manual genotype clustering for the targeted identification of 46,076 variants that were identified using GenomeStudio software.
To evaluate the effects of applying custom cluster files, we tested cluster files using 804 independent Korean samples and the same platform.
Our study firstly suggests practical guidelines for exome chip quality control in Asian populations and provides valuable insight into an association study using exome chip.
American Psychological Association (APA)
Park, Tae-Joon& Heo, Lyong& Moon, Sanghoon& Kim, Young Jin& Oh, Ji Hee& Han, Sohee…[et al.]. 2015. Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population. International Journal of Genomics،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1066017
Modern Language Association (MLA)
Park, Tae-Joon…[et al.]. Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population. International Journal of Genomics No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1066017
American Medical Association (AMA)
Park, Tae-Joon& Heo, Lyong& Moon, Sanghoon& Kim, Young Jin& Oh, Ji Hee& Han, Sohee…[et al.]. Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population. International Journal of Genomics. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1066017
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1066017