When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer

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When 3D genome changes cause disease : the impact of structural variations in congenital disease and cancer. / Weischenfeldt, Joachim; Ibrahim, Daniel M.

In: Current Opinion in Genetics and Development, Vol. 80, 102048, 2023.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Weischenfeldt, J & Ibrahim, DM 2023, 'When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer', Current Opinion in Genetics and Development, vol. 80, 102048. https://doi.org/10.1016/j.gde.2023.102048

APA

Weischenfeldt, J., & Ibrahim, D. M. (2023). When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer. Current Opinion in Genetics and Development, 80, [102048]. https://doi.org/10.1016/j.gde.2023.102048

Vancouver

Weischenfeldt J, Ibrahim DM. When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer. Current Opinion in Genetics and Development. 2023;80. 102048. https://doi.org/10.1016/j.gde.2023.102048

Author

Weischenfeldt, Joachim ; Ibrahim, Daniel M. / When 3D genome changes cause disease : the impact of structural variations in congenital disease and cancer. In: Current Opinion in Genetics and Development. 2023 ; Vol. 80.

Bibtex

@article{515f0b331a4e41a1b4dc13d8030d5f2c,
title = "When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer",
abstract = "Large structural variations (SV) are a class of mutations that have long been known to cause a wide range of genetic diseases, from rare congenital disease to cancer. Many of these SVs do not directly disrupt disease-related genes and determining causal genotype–phenotype relationships has been challenging to disentangle in the past. This has started to change with our increased understanding of the 3D genome folding. The pathophysiologies of the different types of genetic diseases influence the type of SVs observed and their genetic consequences, and how these are connected to 3D genome folding. We propose guiding principles for interpreting disease-associated SVs based on our current understanding of 3D chromatin architecture and the gene-regulatory and physiological mechanisms disrupted in disease.",
author = "Joachim Weischenfeldt and Ibrahim, {Daniel M.}",
note = "Publisher Copyright: {\textcopyright} 2023 Elsevier Ltd",
year = "2023",
doi = "10.1016/j.gde.2023.102048",
language = "English",
volume = "80",
journal = "Current Opinion in Genetics & Development",
issn = "0959-437X",
publisher = "Elsevier Ltd. * Current Opinion Journals",

}

RIS

TY - JOUR

T1 - When 3D genome changes cause disease

T2 - the impact of structural variations in congenital disease and cancer

AU - Weischenfeldt, Joachim

AU - Ibrahim, Daniel M.

N1 - Publisher Copyright: © 2023 Elsevier Ltd

PY - 2023

Y1 - 2023

N2 - Large structural variations (SV) are a class of mutations that have long been known to cause a wide range of genetic diseases, from rare congenital disease to cancer. Many of these SVs do not directly disrupt disease-related genes and determining causal genotype–phenotype relationships has been challenging to disentangle in the past. This has started to change with our increased understanding of the 3D genome folding. The pathophysiologies of the different types of genetic diseases influence the type of SVs observed and their genetic consequences, and how these are connected to 3D genome folding. We propose guiding principles for interpreting disease-associated SVs based on our current understanding of 3D chromatin architecture and the gene-regulatory and physiological mechanisms disrupted in disease.

AB - Large structural variations (SV) are a class of mutations that have long been known to cause a wide range of genetic diseases, from rare congenital disease to cancer. Many of these SVs do not directly disrupt disease-related genes and determining causal genotype–phenotype relationships has been challenging to disentangle in the past. This has started to change with our increased understanding of the 3D genome folding. The pathophysiologies of the different types of genetic diseases influence the type of SVs observed and their genetic consequences, and how these are connected to 3D genome folding. We propose guiding principles for interpreting disease-associated SVs based on our current understanding of 3D chromatin architecture and the gene-regulatory and physiological mechanisms disrupted in disease.

U2 - 10.1016/j.gde.2023.102048

DO - 10.1016/j.gde.2023.102048

M3 - Review

C2 - 37156210

AN - SCOPUS:85156226934

VL - 80

JO - Current Opinion in Genetics & Development

JF - Current Opinion in Genetics & Development

SN - 0959-437X

M1 - 102048

ER -

ID: 346536842