Whole Genome Sequencing
Germline mutations play a key role in genetic disease. Whole genome sequencing is a potential method to detect the individual with known reference genome and analyze genetic variation in individual or population level.
a. High Throughput : 90G
b. High Coverage : can identify SNP, INDELs, SV
c. Mature team & workflow : has finished more than 1000 HWGS cases
d : Sequencing depth : >30 X
De Novo Sequencing
The whole genome sequence of a species was assembled by bioinformatics without reference.
Bacterial de novo sequencing – MiSeq Platform
Plant and Animal de novo sequencing – NextSeq 500 Platform
Feature : Analysis including assembly & annotation
Sequencing depth> 100X
Whole Exome Sequencing
Exome sequencing utilizes probes to capture specific exome regions from a whole genome by targeting the protein coding regions. The goal of exome sequencing is to identify novel gene mutations which are related to both Mendelian disorders and common diseases.