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The regulator said it wanted to ensure more "uniformity of coverage" for 4G services.
Design takes into account uniqueness in the genome, thermodynamic uniformity and seeks to maximize uniformity of coverage under these constraints.
We examine the relative performance across a range of metrics, including targeting efficiency, replicability of performance across heterogeneous DNA samples, uniformity of coverage, and genotype concordance with independently derived genotype data from Illumina Infinium 1M arrays.
Our study highlighted some critical aspects of the technology related to the uniformity of coverage.
The diagonal line indicates perfect uniformity of coverage and deviation indicates an uneven distribution of reads.
RNA-SeQC quantifies the uniformity of coverage with several different metrics.
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There is, however, significant scatter and non-uniformity of coverage.
In conclusion, non-uniformity of coverage is a limitation of exome sequencing and may introduce bias into gene and variant discovery.
Therefore, we evaluated two features of the transcriptome coverage: (a) relative coverage of exons, introns, and intergenic regions, and (b) uniformity of transcript coverage.
In the context of the GC-rich genome of B. pertussis, most platforms gave similar uniformity of sequence coverage, with the Ion Torrent data giving slightly more uneven coverage.
It is evident that the iMDA provides a very high uniformity of genomic coverage and this is in good agreement with the 99.9% coverage value calculated in Table 2.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com