Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer

•We compared SNVs called from WES versus RNA-Seq of the same samples.•We found a low overlap of ∼14% between SNVs called in WES and RNA-Seq.•Low coverage and expression levels explain why some SNVs are missed in RNA-Seq.•Location of SNVs outside of WES capture kit explain why some are missed in WES....

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Methods (San Diego, Calif.) Calif.), 2015-07, Vol.83, p.118-127
Hauptverfasser:	O’Brien, Timothy D., Jia, Peilin, Xia, Junfeng, Saxena, Uma, Jin, Hailing, Vuong, Huy, Kim, Pora, Wang, Qingguo, Aryee, Martin J., Mino-Kenudson, Mari, Engelman, Jeffrey A., Le, Long P., Iafrate, A. John, Heist, Rebecca S., Pao, William, Zhao, Zhongming
Format:	Artikel
Sprache:	eng
Schlagworte:	Allele frequency Exome - genetics Genome, Human High-Throughput Nucleotide Sequencing Humans Lung Neoplasms - genetics Polymorphism, Single Nucleotide - genetics RNA editing RNA-Seq Single nucleotide variants Somatic mutations Transcriptome - genetics Whole exome sequencing
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!