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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.

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Date
2010
Authors
Cirulli, Elizabeth T
Singh, Abanish
Shianna, Kevin V
Ge, Dongliang
Smith, Jason P
Maia, Jessica M
Heinzen, Erin L
Goedert, James J
Goldstein, David B
Center for HIV/AIDS Vaccine Immunology (CHAVI)
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Abstract
BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, whole-exome sequencing using exon capture methods, and RNA-Seq. While whole-genome sequencing is the most complete, it remains sufficiently expensive that cost effective alternatives are important. RESULTS: Here we provide a systematic exploration of how well RNA-Seq can identify human coding variants by comparing variants identified through high coverage whole-genome sequencing to those identified by high coverage RNA-Seq in the same individual. This comparison allowed us to directly evaluate the sensitivity and specificity of RNA-Seq in identifying coding variants, and to evaluate how key parameters such as the degree of coverage and the expression levels of genes interact to influence performance. We find that although only 40% of exonic variants identified by whole genome sequencing were captured using RNA-Seq; this number rose to 81% when concentrating on genes known to be well-expressed in the source tissue. We also find that a high false positive rate can be problematic when working with RNA-Seq data, especially at higher levels of coverage. CONCLUSIONS: We conclude that as long as a tissue relevant to the trait under study is available and suitable quality control screens are implemented, RNA-Seq is a fast and inexpensive alternative approach for finding coding variants in genes with sufficiently high expression levels.
Type
Journal article
Subject
Base Sequence
Databases, Genetic
Exons
Gene Expression Profiling
Gene Expression Regulation
Genome, Human
Humans
Leukocytes, Mononuclear
Polymorphism, Single Nucleotide
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Permalink
https://hdl.handle.net/10161/4395
Published Version (Please cite this version)
10.1186/gb-2010-11-5-r57
Publication Info
Cirulli, Elizabeth T; Singh, Abanish; Shianna, Kevin V; Ge, Dongliang; Smith, Jason P; Maia, Jessica M; ... Center for HIV/AIDS Vaccine Immunology (CHAVI) (2010). Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biol, 11(5). pp. R57. 10.1186/gb-2010-11-5-r57. Retrieved from https://hdl.handle.net/10161/4395.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

David Benjamin Goldstein

Adjunct Professor in the Department of Molecular Genetics and Microbiology
Singh

Abanish Singh

Assistant Professor of Psychiatry and Behavioral Sciences
With a unique skill set resulting from outstanding training, my sole aim was to help improve human health through cutting-edge translational research. Specifically, I have been interested in illuminating the mechanisms responsible for the causes and progression of the leading public health conditions, which may help with the development and enhancement of precision medicine.  As part of this endeavor, I also became interested in studying the measurement of biobehavioral risk factors and
Alphabetical list of authors with Scholars@Duke profiles.
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