Cost |
$5000–$15,000 per sample |
$1000–$2000 per sample |
The cheapest method: $300–$500 per sample |
Starting material |
1 μg of genomic DNA |
3 μg of genomic DNA |
0.1–4 μg of RNA |
Detectable variants |
All possible variants |
Restricted to exonic regions, hard to identify structural variants, and copy number variations |
Detection of variants present in the transcriptome and fusion genes |
Pros |
Detection of all the possible variants present in a genome |
Lower cost, greater depth of coverage, and corresponding improvement in data quality essential to detect mutations at lower frequency |
Identification of tumor-specific fusion transcripts, mRNA-splice variants, and information on gene expression levels |
Cons |
Very expensive, so typically designed with low coverage |
Hard to identify structural variants and copy number alterations |
Hard to identify the corresponding normal samples. Hard to identify SNVs and indels in transcripts at low expression or for which mutations may induce mRNA degradation. Errors due to reverse transcriptase and the phenomenon of RNA editing can make these data difficult to interpret |