BRCA Diagnostic is a software of computational diagnostic test for mutations in the human breast-cancer genes BRCA1 and BRCA2.Here we provide a computational screening test that takes the raw DNA sequence data from a whole-genome sequence of an individual human and tests for each of 68 known mutations in the BRCA1 and BRCA2 genes.For each mutation that it finds, the software reports whether the individual is homozygous or heterozygous for that mutation. This method represents a template that can easily be modified to test for almost any known human genetic mutation.
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Steven L Salzberg, Mihaela Pertea Do-it-yourself genetic testing Genome Biology 2010, 11:404