Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
Genomics & Informatics
;
: 24-33, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-177968
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Distinciones y Premios
/
Leucemia Mieloide Aguda
/
Biología Computacional
/
Pérdida de Heterocigocidad
/
Polimorfismo de Nucleótido Simple
/
Exoma
Límite:
Humanos
Idioma:
Inglés
Revista:
Genomics & Informatics
Año:
2013
Tipo del documento:
Artículo
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