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There was however a strong negative correlation between mean coverage and GC content as higher GC content was associated with lower median coverage per gene.
In stage 1, 2,000 individuals were exome sequenced to a median coverage per individual of 91% of the target region.
> -wrap-foot> RT patient samples were sequenced in nine pools, with 2507× median coverage per sample (range 673 9891); 95% of target regions were sequenced at over 221× per sample.
In total, 18,894 RNA-derived contigs were assembled (comprising 22.1 Mbp of transcriptome sequence) that were greater than 200 bp in length (mean = 1170 bp, Figure 1 and Additional file 2), with a median coverage per base (CPB) per contig of 37×, ranging from 8× (minimum coverage cut-off for assembly) to 5,262× (Additional file 1 Figure S2).
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Average coverage was 12.1 reads per base; average coverage per-animal ranged from 10.1 - 17.5.
We initially calculated the mean and median CRR across the five TAs to assess the average coverage per gene across the transcriptome.
Average coverage per nucleotide was 1571.4×.
However, a 400-mutation panel gives a median coverage of 7.9 mutations per patient (Fig. 3b, right panel) with 82.8% patients covered by at least one mutation and 57.6% of patients covered by two or more mutations.
On average 52.5% of the HAPMAP SNPs per gene were captured (median coverage 59.5%) (Table S1, Table S2).
Normalization was done by a fixed factor per tissue sample to adjust the median coverage over all exons to the same level across all samples.
The normalized counts were obtained by subtracting the per-bin coverage counts from the GC correction minus the median coverage count of the sample.
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