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Updated: May 12, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Annotation of genes having candidate somatic mutations in acute myeloid leukemia with whole-exome sequencing using
Kye Hwa Lee1, Jae Hyeun Lim, Ju Han Kim
1Division of Biomedical Informatics, Seoul National University Biomedical Informatics (SNUBI) and Systems Biomedical Informatics National Core Research Center, Seoul National University College of Medicine, Seoul 110-799, Korea.
Abstract:
In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in whole-exome sequencing in acute myeloid leukemia (AML). We selected 45 highly mutated genes with whole-exome sequencing in 10 normal matched samples of the AML-M2 subtype. To evaluate these genes, we performed concept lattice analysis and annotated these genes with existing knowledge databases.

