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Article

Functional enrichment analysis with structural variants: pitfalls and strategies.

Cytogenetic and genome research - 1 Jan 2011

Webber C

Abstract excerpt

Interpreting the phenotypic consequences of human structural variation remains challenging. Functional enrichment analysis, which can identify functional enrichments among genes affected by structural variants, is providing significant biological insights into the genotype-phenotype relationship. In this review, we discuss the different approaches and choices in the application of this technique to human...

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PMID: 21997137
DOI: 10.1159/000331670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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