Bioinformatics interpretation of exome sequencing : blood cancer = 혈액암 엑솜의 생물정보학적 분석

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Title
Bioinformatics interpretation of exome sequencing : blood cancer = 혈액암 엑솜의 생물정보학적 분석
Author(s)
Jiwoong Kim; Yun Gyeong Lee; Namshin Kim
Bibliographic Citation
Genomics & Informatics, vol. 11, no. 1, pp. 24-33
Publication Year
2013
Abstract
We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. We had removed sample G06 because the pair is not correct and G10 because of possible contamination. In-house software somatic copy-number and heterozygosity alteration estimation (SCHALE) was used to detect one loss of heterozygosity region in G05. We had discovered 27 functionally important mutations. Network and pathway analyses gave us clues that NPM1, GATA2, and CEBPA were major driver genes. By comparing with previous somatic mutation profiles, we had concluded that the provided data originated from acute myeloid leukemia. Protein structure modeling showed that somatic mutations in IDH2, RASGEF1B, and MSH4 can affect protein structures.
Keyword
acute myeloid leukemiacomputational biologyexomemutation
ISSN
I000-0158
Publisher
Korea Soc-Assoc-Inst
DOI
http://dx.doi.org/10.5808/GI.2013.11.1.24
Type
Article
Appears in Collections:
1. Journal Articles > Journal Articles
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