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Its complicated library construction procedure and high sequencing cost are two main limiting factors for the use in individual laboratories.
There are still some remaining challenges for the usage of WES in large-scale case control studies, in particular the high sequencing price combined with the need for big sample sizes.
To attenuate the problem of high sequencing error rate in ESTs, our procedure retrieved candidate mutations only in the region of maximum nucleotide identity to the query.
We instead opted for high sequencing effort.
The Pipeline of experiments before Illumine high sequencing.
This large dataset resulted in a relatively high sequencing depth, with an average of 46.33 folds.
In PD4120a, the high sequencing depth enables us to infer the existence of several subclonal expansions.
Overall, validation of BSAS was performed at high sequencing read depths (Additional file 1: Figure S2).
Similary, even at high sequencing coverage, resolution is very limited regardingless of read length.
Hence, Tophat is suitable for detecting splice junctions with high sequencing coverage.
This example also demonstrates the importance of high sequencing depth to capture transcripts with low abundance.
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