Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Normalization of whole-genome SNP data from acute monocytic leukemia patients for exome sequencing

ABSTRACT: With the whole genome SNPs array information, we could evaluate the sensitivity and specificity of the point mutation we conclude from the next-generation sequencing data. Furthermore, we could use the true positive mutation as our guidance to exclude the most unreliable single nucleotide variation detected from sequence. After the process, we could promise a very high specificity under minimum loss of sensitivity. To evaluate the sensitivity and specificity of point mutaions detected through the next-generation sequencing data from nine cases of M5 leukemia patients.

ORGANISM(S): Homo sapiens

SUBMITTER: Zhaohui Gu

PROVIDER: E-GEOD-27193 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.

Yan Xiao-Jing XJ Xu Jie J Gu Zhao-Hui ZH Pan Chun-Ming CM Lu Gang G Shen Yang Y Shi Jing-Yi JY Zhu Yong-Mei YM Tang Lin L Zhang Xiao-Wei XW Liang Wen-Xue WX Mi Jian-Qing JQ Song Huai-Dong HD Li Ke-Qin KQ Chen Zhu Z Chen Sai-Juan SJ

Nature genetics 20110313 4

Abnormal epigenetic regulation has been implicated in oncogenesis. We report here the identification of somatic mutations by exome sequencing in acute monocytic leukemia, the M5 subtype of acute myeloid leukemia (AML-M5). We discovered mutations in DNMT3A (encoding DNA methyltransferase 3A) in 23 of 112 (20.5%) cases. The DNMT3A mutants showed reduced enzymatic activity or aberrant affinity to histone H3 in vitro. Notably, there were alterations of DNA methylation patterns and/or gene expression ...[more]

PMID: 21399634

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Dataset Information

Normalization of whole-genome SNP data from acute monocytic leukemia patients for exome sequencing

Publications

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.

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