This area of research is based on previous studies on gene structures, gene functions, and relative relationships with diseases, At personal genomics level, to analysis and interpret all the health-related information from a genetic point-of-view. This interpretation includes:

· Screening for monogenetic diseases

· Risk prediction of polygenic diseases

· Consultancy on medical treatment for certain diseases

· Construction and maintenance of databases on human mutations, drug targets, and etc.

Construction of reference metagenome in human gut

MetaHIT was a project founded by the European Commission under the 7th FP program. The project was initiated on January 1, 2008 and completed on June 30, 2012. It aimed to explore associations between the genes of the human intestinal microbiota with  health and disease. Two disorders of increasing importance in the whole world. Inflammatory Bowel Disease (IBD) and obesity, were studied in this project. As a major player of the project, BGI constructed the research platform, developed several bioinformatics algorithms and made majority contribution on the work of sequencing data assembly, annotation, variation indentification and function analysis. In 2010, MetaHIT research was published as cover-story in Nature: A human gut microbial gene catalogue established by metagenomic sequencing. In this study, we analyzed samples from 124 individuals of Danish and Spanish origin, some were healthy and some, suffering from IBD or obesity. An extensive bio-informatics analysis showed a staggering number of 3.3 million different genes among the individuals that we analyzed, 150-fold more than in our own genome. More than 85% of all the frequent genes that the 124 individuals carry were identified at the value determined by an appropriate statistical analysis. Some 99% of the genes were of bacterial origin, in accordance with the predominance of bacteria among the intestinal microbes. According to the gene number, was suggested that there are at least 1000 bacterial species frequent in our gut and about 160 species are in a dominant position, more interestingly, most of these 160 species are shared in different individuals. But on the other side, a large part in these genes still couldn’t be perfectly aligned to a reference bacterial genome, which means they belong to unknown bacteria species. The achievement of MetaHIT, an era of metagenomics with rapid progress in techniques, more international cooperated projects in this domain, and a huge number of new bacteria or new genes to be discovered.