Structural Variation

Structural Variation is a type of genetic variation characterized by differences in the structure of genomes, including deletions, duplications, inversions, and translocations, that distinguish it from single nucleotide variants and other molecular-level genetic changes.

500

Publications

74.3K

Citations

4.1K

Authors

1.2K

Institutions

Publications per year

2017–2026

144

Parents

Comparative GeneticsGenomicsPlant Genomics

Children

Assembly-based Structural Variant DiscoveryBreakpoint AnalysisChromosomal RearrangementsComplex Structural VariantsCopy Number PolymorphismDeletionsDuplicationsInsertionsInversionsLong-read Structural Variant Analysis

Publications

500

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer, Colby Chiang, Aaron R. Quinlan et al. · Genome biology · 2014 · 1.8K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

Ken Chen, John W. Wallis, Michael D. McLellan et al. · Nature Methods · 2009 · 1.6K citations

Life Sciences, Bioinformatics, Genetics +14

1–5 of 500

Authors

4.1K

EE
Evan E. Eichler
University of Washington, United States
24 publications · 9.3K citations
23
h-index
JO
Jan O. Korbel
European Molecular Biology Laboratory, Germany
14 publications · 6.3K citations
14
h-index
KY
Kai Ye
Xi'an Jiaotong University, China
11 publications · 6.2K citations
11
h-index
CL
Charles Lee
Harvard University, United States
10 publications · 5.6K citations
10
h-index
FJ
Fritz J. Sedlazeck
Baylor College of Medicine, United States
10 publications · 1.7K citations
10
h-index

1–5 of 4.1K

Institutions

1.2K

1–8 of 1.2K

Venues

Genome biology
23 publications · 6K citations
22
h-index
Genome Research
GR · 22 publications · 2.8K citations
20
h-index
Nature
17 publications · 8.1K citations
16
h-index
bioRxiv (Cold Spring Harbor Laboratory)
Repository · 17 publications · 613 citations
16
h-index
Bioinformatics
15 publications · 19K citations
15
h-index

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