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Article

Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Trends in genetics : TIG - 1 Oct 2015

Weckselblatt Brooke, Rudd M Katharine

Abstract excerpt

Chromosome structural variation (SV) is a normal part of variation in the human genome, but some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA sequence at SV breakpoints can reveal mutational mechanisms and risk factors for chromosome rearrangement. Large-scale SV breakpoint studies have become possible recently owing to advances in next-generation sequencing (NGS) including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26209074
DOI: 10.1016/j.tig.2015.05.010
PMCID: PMC4600437

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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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