Phenotypic impact of genomic structural variation: insights from and for human disease

Joachim Weischenfeldt; Orsolya Symmons; François Spitz; Jan O Korbel

doi:10.1038/nrg3373

Phenotypic impact of genomic structural variation: insights from and for human disease

Joachim Weischenfeldt, Orsolya Symmons, François Spitz, Jan O Korbel

255 Citations (Scopus)

Abstract

Genomic structural variants have long been implicated in phenotypic diversity and human disease, but dissecting the mechanisms by which they exert their functional impact has proven elusive. Recently however, developments in high-throughput DNA sequencing and chromosomal engineering technology have facilitated the analysis of structural variants in human populations and model systems in unprecedented detail. In this Review, we describe how structural variants can affect molecular and cellular processes, leading to complex organismal phenotypes, including human disease. We further present advances in delineating disease-causing elements that are affected by structural variants, and we discuss future directions for research on the functional consequences of structural variants.

Original language	English
Journal	Nature Reviews. Genetics
Volume	14
Issue number	2
Pages (from-to)	125-38
Number of pages	14
ISSN	1471-0056
DOIs	https://doi.org/10.1038/nrg3373
Publication status	Published - Feb 2013
Externally published	Yes

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10.1038/nrg3373

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abstract = "Genomic structural variants have long been implicated in phenotypic diversity and human disease, but dissecting the mechanisms by which they exert their functional impact has proven elusive. Recently however, developments in high-throughput DNA sequencing and chromosomal engineering technology have facilitated the analysis of structural variants in human populations and model systems in unprecedented detail. In this Review, we describe how structural variants can affect molecular and cellular processes, leading to complex organismal phenotypes, including human disease. We further present advances in delineating disease-causing elements that are affected by structural variants, and we discuss future directions for research on the functional consequences of structural variants.",

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AU - Korbel, Jan O

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AB - Genomic structural variants have long been implicated in phenotypic diversity and human disease, but dissecting the mechanisms by which they exert their functional impact has proven elusive. Recently however, developments in high-throughput DNA sequencing and chromosomal engineering technology have facilitated the analysis of structural variants in human populations and model systems in unprecedented detail. In this Review, we describe how structural variants can affect molecular and cellular processes, leading to complex organismal phenotypes, including human disease. We further present advances in delineating disease-causing elements that are affected by structural variants, and we discuss future directions for research on the functional consequences of structural variants.

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KW - Computational Biology

KW - Disease

KW - Disease Models, Animal

KW - Epistasis, Genetic

KW - Gene Dosage

KW - Gene Regulatory Networks

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Phenotypic impact of genomic structural variation: insights from and for human disease

Abstract

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