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Review
. 2017 Feb;60(2):116-125.
doi: 10.1007/s11427-015-0349-4. Epub 2016 Jun 13.

Characterizing and annotating the genome using RNA-seq data

Affiliations
Review

Characterizing and annotating the genome using RNA-seq data

Geng Chen et al. Sci China Life Sci. 2017 Feb.

Abstract

Bioinformatics methods for various RNA-seq data analyses are in fast evolution with the improvement of sequencing technologies. However, many challenges still exist in how to efficiently process the RNA-seq data to obtain accurate and comprehensive results. Here we reviewed the strategies for improving diverse transcriptomic studies and the annotation of genetic variants based on RNA-seq data. Mapping RNA-seq reads to the genome and transcriptome represent two distinct methods for quantifying the expression of genes/transcripts. Besides the known genes annotated in current databases, many novel genes/transcripts (especially those long noncoding RNAs) still can be identified on the reference genome using RNA-seq. Moreover, owing to the incompleteness of current reference genomes, some novel genes are missing from them. Genome- guided and de novo transcriptome reconstruction are two effective and complementary strategies for identifying those novel genes/transcripts on or beyond the reference genome. In addition, integrating the genes of distinct databases to conduct transcriptomics and genetics studies can improve the results of corresponding analyses.

Keywords: RNA-seq; de novo assembly; genetic variants; genome-guided transcriptome reconstruction; long noncoding RNA.

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