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Article

Large-scale inference of the point mutational spectrum in human segmental duplications.

BMC genomics - 22 Jan 2009

Nakken Sigve, Rødland Einar A, Rognes Torbjørn, Hovig Eivind

Abstract excerpt

BACKGROUND: Recent segmental duplications are relatively large (> or = 1 kb) genomic regions of high sequence identity (> or = 90%). They cover approximately 4-5% of the human genome and play important roles in gene evolution and genomic disease. The DNA sequence differences between copies of a segmental duplication represent the result of various mutational events over time, since any two duplication copies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19161616
DOI: 10.1186/1471-2164-10-43
PMCID: PMC2640414

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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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