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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 39 - 47 (9page)
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Next generation sequencing (NGS) has traditionally been performed in various fields including agricultural to clinical and there are so many sequencing platforms available in order to obtain accurate and consistent results. However, these platforms showed amplification bias when facilitating variant calls in personal genomes. Here, we sequenced whole genomes and whole exomes from ten Korean individuals using Illumina and Ion Proton, respectively to find the vulnerability and accuracy of NGS platform in the GC rich/poor area. Overall, a total of 1013 Gb reads from Illumina and ~39.1 Gb reads from Ion Proton were analyzed using BWA-GATK variant calling pipeline. Furthermore, conjunction with the VQSR tool and detailed filtering strategies, we achieved high-quality variants. Finally, each of the ten variants from Illumina only, Ion Proton only, and intersection was selected for Sanger validation. The validation results revealed that Illumina platform showed higher accuracy than Ion Proton. The described filtering methods are advantageous for large population-based whole genome studies designed to identify common and rare variations associated with complex diseases.
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참고문헌 (23)
참고문헌 신청
Abyzov A / 2015 / Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms / Nat Commun 6:7256
Boland JF / 2013 / The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing / Hum Genet 132:1153~1163
Conrad DF / 2010 / Origins and functional impact of copy number variation in the human genome / Nature 464:704~712
DePristo MA / 2011 / A framework for variation discovery and genotyping using nextgeneration DNA sequencing data / Nat Genet 43:491~498
Gonzaga-Jauregui C / 2012 / Human genome sequencing in health and disease / Annu Rev Med 63:35~61
Boland JF / 2013 / The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing / Hum Genet 132:1153~1163
Conrad DF / 2010 / Origins and functional impact of copy number variation in the human genome / Nature 464:704~712
DePristo MA / 2011 / A framework for variation discovery and genotyping using nextgeneration DNA sequencing data / Nat Genet 43:491~498
Gonzaga-Jauregui C / 2012 / Human genome sequencing in health and disease / Annu Rev Med 63:35~61
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