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DIAMUND: direct comparison of genomes to detect mutations.

Human mutation - 1 Mar 2014

Salzberg Steven L, Pertea Mihaela, Fahrner Jill A, Sobreira Nara

Abstract excerpt

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...

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Identifiers

PMID: 24375697
DOI: 10.1002/humu.22503
PMCID: PMC4031744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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