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Article

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,...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24375697-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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