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Article

Genetic variation and the de novo assembly of human genomes.

Nature reviews. Genetics - 1 Nov 2015

Chaisson Mark J P, Wilson Richard K, Eichler Evan E

Abstract excerpt

The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quality genome assemblies or resolve most structural variation. Full resolution of variation is only guaranteed by complete de novo...

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Identifiers

PMID: 26442640
DOI: 10.1038/nrg3933
PMCID: PMC4745987

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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