For different individuals or group from the whole human genome sequencing, and on the basis of the difference analysis was carried out on the individual or group.
Human whole genome sequencing is to determine the complete DNA sequence of human's genome at a single time, which generates large number of single nucleotide polymorphism loci (SNP), insertion/deletion (InDel), structure variations (SV), copy number variations (CNV).
It provides much information for screening disease related genes to promote the development of medical technology.
HiSeq X， PE150
30X, 50X 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／CNV／SV／CNV calling, annotation and statistics
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