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Therefore, despite high WES mean coverage and elevated rates of both concordance and sensitivity in mutation detection, it is also necessary to assess and to verify the homogeneity of the target capture, specially in the genes of interest that have to be screened for molecular diagnosis (Table 2).
Each variant profile summarized zygosity, mean coverage, and mean alternative allele frequency across samples.
Sorted coverage plots: Exons were sorted by their mean coverage and plotted along the x-axis.
This led to a sequencing mean coverage and depth of approx. 72% and 11-fold over the whole genome, respectively.
We found that the mean coverage and read coverage distributions for the two sets of SNPs is virtually identical.
Over all virus genomes in all reported cell lines we calculated the sum of the mean coverage and the double standard deviation.
Similar(39)
The SNP detection rate correlated with the mean base coverage, and was unaffected by the pooling strategy.
The exome analyses of the DNA of patient II-3 and II-4 yielded 80.03 and 49.61 million confidently mapped reads, respectively (mean coverage X86.65 and X58.59, respectively).
Total trimmed reads, mean coverage depth and NCBI SRX numbers are listed.
We also generated WGS (mean coverage =30X) and WES (mean coverage =110X) data from an in-house sample K8101-49685s (not from SSC), which was extensively investigated in the later validation experiment.
To determine if mean coverage depth and variance was affected by the presence of paralogs, we separated the data for target genes into two categories: single-copy and those with retained duplicates from the salicoid whole-genome duplication.
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