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Whole exome sequencing is becoming more readily available for gene discovery. Two groups of investigators undertook exome-wide approaches to identifying new genes that may be mutated in melanoma.
Stark and colleagues performed exome-wide sequencing of eight melanoma lines and matched normal germline DNA from blood. They found 3215 somatic alterations (i.e., mutations found only in tumor DNA but not in normal blood DNA); 1076 were synonymous (silent) mutations, and 2139 were predicted to alter protein structure. In most genes, the ratio of nonsynonymous to synonymous (N:S) mutations was low, suggesting that most observed changes in any given gene are random and not drivers of tumor progression. In other words, if mutations in a gene occur ran…