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Article

Copy number variation alters local and global mutational tolerance.

Genome research - 1 Aug 2023

Avecilla Grace, Spealman Pieter, Matthews Julia, Caudal Elodie, Schacherer Joseph, Gresham David

Abstract excerpt

Copy number variants (CNVs), duplications and deletions of genomic sequences, contribute to evolutionary adaptation but can also confer deleterious effects and cause disease. Whereas the effects of amplifying individual genes or whole chromosomes (i.e., aneuploidy) have been studied extensively, much less is known about the genetic and functional effects of CNVs of differing sizes and structures. Here, we...

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Identifiers

PMID: 37652668
DOI: 10.1101/gr.277625.122
PMCID: PMC10547251

Provenance

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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