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Article

Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis.

Genome research - 1 Jul 2016

Dhokarh Dhananjay, Abyzov Alexej

Abstract excerpt

Copy number variants (CNVs) are a class of structural variants that may involve complex genomic rearrangements (CGRs) and are hypothesized to have additional mutations around their breakpoints. Understanding the mechanisms underlying CNV formation is fundamental for understanding the repair and mutation mechanisms in cells, thereby shedding light on evolution, genomic disorders, cancer, and complex human traits....

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Share to Chromosome Breakpoints
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27216746
DOI: 10.1101/gr.205484.116
PMCID: PMC4937565

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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