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Reliable identification of genomic variants from RNA-seq data

American Journal of Human Genetics

Oct 1, 2013

Robert PiskolJin Billy Li

Abstract

Identifying genomic variation is a crucial step for unraveling the relationship between genotype and phenotype and can yield important insights into human diseases. Prevailing methods rely on cost-intensive whole-genome sequencing (WGS) or whole-exome sequencing (WES) approaches while t...read more

Mentioned in this Paper

Untranslated Regions
Exons
Genome
Sequence Determinations, RNA
Somatic Mutation
RNA, Polyadenylated
Neoplasms
Single Nucleotide Polymorphism Database
Gene Expression
RNA Editing
25
1
711
Paper Details
References
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  • Citations80
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  • References38
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Reliable identification of genomic variants from RNA-seq data

American Journal of Human Genetics

Oct 1, 2013

Robert PiskolJin Billy Li

PMID: 24075185

DOI: 10.1016/j.ajhg.2013.08.008

Abstract

Identifying genomic variation is a crucial step for unraveling the relationship between genotype and phenotype and can yield important insights into human diseases. Prevailing methods rely on cost-intensive whole-genome sequencing (WGS) or whole-exome sequencing (WES) approaches while t...read more

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Exons
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Somatic Mutation
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Single Nucleotide Polymorphism Database
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Paper Details
References
  • References38
  • Citations80
1234
  • References38
  • Citations80
12345...
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