Article
MAC: identifying and correcting annotation for multi-nucleotide variations.
BMC genomics - 1 Aug 2015
Wei Lei, Liu Lu T, Conroy Jacob R, Hu Qiang, Conroy Jeffrey M, Morrison Carl D, Johnson Candace S, Wang Jianmin, Liu Song
Abstract excerpt
BACKGROUND: Next-Generation Sequencing (NGS) technologies have rapidly advanced our understanding of human variation in cancer. To accurately translate the raw sequencing data into practical knowledge, annotation tools, algorithms and pipelines must be developed that keep pace with the rapidly evolving technology. Currently, a challenge exists in accurately annotating multi-nucleotide variants (MNVs). These...
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