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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Nature Reviews. Genetics
Vol/bind	14
Udgave nummer	2
Sider (fra-til)	125-38
Antal sider	14
ISSN	1471-0056
DOI	https://doi.org/10.1038/nrg3373
Status	Udgivet - feb. 2013
Udgivet eksternt	Ja

Emneord

Animals
Computational Biology
Disease
Disease Models, Animal
Epistasis, Genetic
Gene Dosage
Gene Regulatory Networks
Genetic Association Studies
Genetic Diseases, Inborn
Genomic Structural Variation
Humans
Mice
Models, Genetic
RNA, Messenger

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10.1038/nrg3373

Citationsformater

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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.",

keywords = "Animals, Computational Biology, Disease, Disease Models, Animal, Epistasis, Genetic, Gene Dosage, Gene Regulatory Networks, Genetic Association Studies, Genetic Diseases, Inborn, Genomic Structural Variation, Humans, Mice, Models, Genetic, RNA, Messenger",

author = "Joachim Weischenfeldt and Orsolya Symmons and Fran{\c c}ois Spitz and Korbel, {Jan O}",

year = "2013",

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doi = "10.1038/nrg3373",

language = "English",

volume = "14",

pages = "125--38",

journal = "Nature Reviews. Genetics",

issn = "1471-0056",

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T1 - Phenotypic impact of genomic structural variation

T2 - insights from and for human disease

AU - Weischenfeldt, Joachim

AU - Symmons, Orsolya

AU - Spitz, François

AU - Korbel, Jan O

PY - 2013/2

Y1 - 2013/2

N2 - 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.

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.

KW - Animals

KW - Computational Biology

KW - Disease

KW - Disease Models, Animal

KW - Epistasis, Genetic

KW - Gene Dosage

KW - Gene Regulatory Networks

KW - Genetic Association Studies

KW - Genetic Diseases, Inborn

KW - Genomic Structural Variation

KW - Humans

KW - Mice

KW - Models, Genetic

KW - RNA, Messenger

U2 - 10.1038/nrg3373

DO - 10.1038/nrg3373

M3 - Journal article

C2 - 23329113

SN - 1471-0056

VL - 14

SP - 125

EP - 138

JO - Nature Reviews. Genetics

JF - Nature Reviews. Genetics

IS - 2

ER -

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

Abstract

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