Article
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.
Proceedings of the National Academy of Sciences of the United States of America - 13 Aug 2013
Gartner Jared J, Parker Stephen C J, Prickett Todd D, Dutton-Regester Ken, Stitzel Michael L, Lin Jimmy C, Davis Sean, Simhadri Vijaya L, Jha Sujata, Katagiri Nobuko, Gotea Valer, Teer Jamie K, Wei Xiaomu, Morken Mario A, Bhanot Umesh K, Chen Guo, Elnitski Laura L, Davies Michael A, Gershenwald Jeffrey E, Carter Hannah, Karchin Rachel, Robinson William, Robinson Steven, Rosenberg Steven A, Collins Francis S, Parmigiani Giovanni, Komar Anton A, Kimchi-Sarfaty Chava, Hayward Nicholas K, Margulies Elliott H, Samuels Yardena
Abstract excerpt
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683-691]. However, synonymous mutations are rarely investigated in the cancer genomics field. We used whole-genome and -exome sequencing to identify somatic mutations in 29 melanoma samples. Validation of one synonymous somatic mutation in BCL2L12 in 285...
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