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Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

Genome Research

Aug 25, 2011

Andreas SchlattlJan O Korbel

Abstract

Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread impact on individual traits. While recent advances, such as the population-scale sequencing of human genomes, facilitated the fine-scale mapping of CNVs, the phenotypic impact of most of t...read more

Mentioned in this Paper

Gene Dosage
DNA Copy Number Changes
Gene Expression
Transcriptome
Single Nucleotide Polymorphism
Gene Expression Profiles
4
190
Paper Details
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Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

Genome Research

Aug 25, 2011

Andreas SchlattlJan O Korbel

PMID: 21862627

DOI: 10.1101/gr.122614.111

Abstract

Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread impact on individual traits. While recent advances, such as the population-scale sequencing of human genomes, facilitated the fine-scale mapping of CNVs, the phenotypic impact of most of t...read more

Mentioned in this Paper

Gene Dosage
DNA Copy Number Changes
Gene Expression
Transcriptome
Single Nucleotide Polymorphism
Gene Expression Profiles
4
190

Related Papers

Science

Relative impact of nucleotide and copy number variation on gene expression phenotypes

ScienceFebruary 10, 2007
Barbara E StrangerEmmanouil T Dermitzakis
Paper Details
References
  • References47
  • Citations44
12345
  • References47
  • Citations44
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