Exome sequencing, an innovative exome-targeted research technology, is the fastest and one of the most useful technologies for searching for variants that may cause diseases. In order to continue providing superior service, BGI has upgraded its whole exome sequencing product and now delivers additional bioinformatics analysis services at no extra cost. Of particular note, we have updated our advanced and customized analysis to provide more comprehensive and superior analyses suitable for research in cancer, complex disease, population genetics, and Mendelian disorders.

Cancer

1、We now provide preliminary identification for paired tumor-normal samples based on MassARRAY, to avoid incorrect information of pair samples.
2、CancerGeneCensus database is added for non-synonymous annotation of mutated genes.

Complex Diseases

1、A rigorous and robust bioinformatics analysis pipeline is developed to perform strict quality control for large-scale exome sequencing data sets. The pipeline includes population- level SNP calling, LD-based genotyping calling, systematic sample QC and SNP site QC, and SNP association.
2、OMIM database has been added for SNP annotation.

Complex Diseases (Customized Solutions)

1、A case-control matching method is now used to control population stratification to ensure genetic homogeneity of the sample.
2、Pathway-based protein interaction analysis (pairwise or multiple interaction) is now included to detect interacting genes.
3、eQTL analysis has been added to find more reliable causal SNPs.

Population Genetics

1、Population SNP QC and sample QC is performed to find more reliable SNPs.
2、Multiple selection detection methods, including iHS, XP-EHH, and DDAF, are used to ensure reliable results.
3、Pathway analysis and haplotype analysis have also been added, facilitating the mining of information at a deeper level.

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