지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 191 - 199 (9page)
이용수
초록· 키워드
오류제보하기
High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to discover variants that are different from the reference genome, and to prioritize/rank the variants for the question of interest. The recent development of many computational algorithms and programs has vastly improved the ability to translate sequence data into valuable information for disease gene identification. However, the NGS data analysis is complex and could be overwhelming for researchers who are not familiar with the process. Here, we outline the analysis pipeline and describe some of the most commonly used principles and tools for analyzing NGS data for disease gene identification.
목차
등록된 정보가 없습니다.
참고문헌 (54)
참고문헌 신청
Bromberg Y / 2013 / Building a genome analysis pipeline to predict disease risk and prevent disease / J Mol Biol 425:3993~4005
Moreau Y / 2012 / Computational tools for prioritizing candidate genes: boosting disease gene discovery / Nat Rev Genet 13:523~536
Altmann A / 2012 / A beginners guide to SNP calling from high-throughput DNA-sequencing data / Hum Genet 131:1541~1554
Lyon GJ / 2012 / Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress / Genome Med 4:58
Pabinger S / 2013 / A survey of tools for variant analysis of next-generation genome sequencing data / Brief Bioinform
Moreau Y / 2012 / Computational tools for prioritizing candidate genes: boosting disease gene discovery / Nat Rev Genet 13:523~536
Altmann A / 2012 / A beginners guide to SNP calling from high-throughput DNA-sequencing data / Hum Genet 131:1541~1554
Lyon GJ / 2012 / Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress / Genome Med 4:58
Pabinger S / 2013 / A survey of tools for variant analysis of next-generation genome sequencing data / Brief Bioinform
이 논문의 저자 정보
최근 본 자료
댓글(0)
0