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Whole Exome Seq Bioinformatics Analysis Sample Figures

Introduction

Whole Exome Sequencing

a. sequence alignment, reads filtering, realignment, quality recalibration, and reads mapping QC

  Normal 1 Tumor 1 Normal 2 Tumor 2 Normal 3 Tumor 3
Reference size 3,095,693,983 3095693983 3,095,693,983 3,095,693,983 3,095,693,983 3,095,693,983
Number of   reads 86,706,324 102627622 109,799,781 83,914,383 115,869,230 80,665,035
Mapped reads 86,587,441 / 99.86% 102,588,905 / 99.96% 109,762,294 / 99.97% 83,877,722 / 99.96% 115,832,856 / 99.97% 80,626,945 / 99.95%
Unmapped reads 118,883 / 0.14% 38,717 / 0.04% 37,487 / 0.03% 36,661 / 0.04% 36,374 / 0.03% 38,090 / 0.05%
Paired reads 86,587,441 / 99.86% 102,588,905 / 99.96% 109,762,294 / 99.97% 83,877,722 / 99.96% 115,832,856 / 99.97% 80,626,945 / 99.95%
Mapped reads,   only first in pair 43,286,063 / 49.92% 51,291,221 / 49.98% 54,880,805 / 49.98% 41,914,696 / 49.95% 57,916,798 / 49.98% 40,300,489 / 49.96%
Mapped reads,   only second in pair 43,301,378 / 49.94% 51,297,684 / 49.98% 54,881,489 / 49.98% 41,963,026 / 50.01% 57,916,058 / 49.98% 40,326,456 / 49.99%
Mapped reads,   both in pair 86,573,278 / 99.85% 102,582,802 / 99.96% 109,755,824 / 99.96% 83,872,753 / 99.95% 115,826,907 / 99.96% 80,621,834 / 99.95%
Mapped reads,   singletons 14,163 / 0.02% 6,103 / 0.01% 6,470 / 0.01% 4,969 / 0.01% 5,949 / 0.01% 5,111 / 0.01%
Read   min/max/mean length 30 / 100 / 99.94 30 / 100 / 99.96 30 / 100 / 99.97 30 / 100 / 99.92 30 / 100 / 99.97 30 / 100 / 99.93
Clipped reads 1,256,415 / 1.45% 1,267,288 / 1.23% 1,334,414 / 1.22% 1,315,628 / 1.57% 1,513,714 / 1.31% 1,162,661 / 1.44%
Duplicated   reads (estimated) 29,861,320 / 34.44% 39,939,833 / 38.92% 41,033,470 / 37.37% 28,890,082 / 34.43% 48,801,888 / 42.12% 28,795,360 / 35.7%
Duplication   rate 32.12% 35.14% 33.94% 31.05% 38.01% 32.21%

This table summarized all read mapping statistics: total reads, mapped reads, un-mapped reads, paired reads, Mapped reads for first pair, second pair, both in pair or singletons. The maximum, minimum and mean read length, and finally the duplication rate of reads.  

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This plot showed good exome coverage of these samples in WES. The average coverage of each sample is more than 80. X-axis is the read depth (coverage) and y –axis is the fraction of target region with depth more than the number in x-axis.

  b. Germline variants, compared to reference genome

  c. Somatic mutations if Tumor-Normal pair (SNP, INDEL, CNV and SNV variant filtering, calling and annotation)

(1) SNP analysis

Sample 1:

      

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(2) INDEL analysis

Normal sample:

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(3) SNV analysis

Novel somatic mutations results table:

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Novel LOH results table:

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