In view of the genome sequenced all exons.
Exome sequencing provides a cost-effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants.
More economical and efficient.
HiSeq、PE150/100X、200X or more
Data quality control: filtering out reads containing adapters or with low quality.
Alignment with reference genome, statistics of sequencing depth and coverage.
SNP/InDel/SV/CNV calling, annotation and statistics
Somatic SNP/InDel/CNV testing, comments, and statistics.
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