Structural variation mutagenesis of the human genome: Impact on disease and evolution-Reference-Cited by-同舟云学术

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Structural variation mutagenesis of the human genome: Impact on disease and evolution

Published:2015-04-17 Issue:5 Volume:56 Page:419-436
ISSN:0893-6692
Container-title:Environmental and Molecular Mutagenesis
language:en
Short-container-title:Environ. Mol. Mutagen.

Author:

Lupski James R.¹

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; One Baylor Plaza Room 604B Houston Texas

Funder

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Genetics(clinical),Epidemiology

Reference136 articles.

1. Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants;Arlt;Am J Hum Genet,2009

2. Hydroxyurea induces de novo copy number variants in human cells;Arlt;Proc Natl Acad Sci U S A,2011

3. De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining;Arlt;PLoS Genet,2012

4. Copy number variants are produced in response to low-dose ionizing radiation in cultured cells;Arlt;Environ Mol Mutagen,2014

5. Whole-genome sequencing for optimized patient management;Bainbridge;Sci Transl Med,2011

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2. Impact and characterization of serial structural variations across humans and great apes;Nature Communications;2024-09-13

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4. SVvalidation: A long-read-based validation method for genomic structural variation;PLOS ONE;2024-01-05

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