DIAMUND

DNA sequencing has become a powerful method to discover the genetic basis of
disease. Standard, widely used protocols for analysis usually begin by comparing
each individual to the human reference genome. When applied to a set of related
individuals, this approach reveals millions of differences, most of which are
shared among the individuals and unrelated to the disease being investigated. We
have developed a novel algorithm for variant detection, one that compares DNA
sequences directly to one another, without aligning them to the reference genome.
When used to find de novo mutations in exome sequences from family trios, or to
compare normal and diseased samples from the same individual, the new method,
direct alignment for mutation discovery (DIAMUND), produces a dramatically
smaller list of candidate mutations than previous methods, without losing
sensitivity to detect the true cause of a genetic disease. We demonstrate our
results on several example cases, including two family trios in which it
correctly found the disease-causing variant while excluding thousands of harmless
variants that standard methods had identified.

DIAMUND: direct comparison of genomes to detect mutations.

DIAMUND is a software tool to detect DNA sequence variants without a reference sequence. The DIAMUND algorithm compares a pair of DNA sequences to one another; thus, producing a limited list of candidates without a loss of sensitivity.

DIAMUND

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