The vision of "Genomic Medicine" is to incorporate genetics/genomics into the diagnosis, prognosis, and treatment of human disease. Research in human genetics has produced large amounts of DNA/RNA sequencing data for relating genetic variation to health and disease. Identifying the genetic variants that are predisposing to complex diseases or traits is one of the most important problems in human genetics. Genome-wide association studies (GWAS) using genotyping are searching for regions of variation in human DNA that underlie particular diseases or effects of medicines. The genetic factors that influence health, disease and response to treatment in these regions need to be examined much more comprehensively by sequencing. Next-generation sequencing (NGS) technology makes it possible to use high-throughput sequencing as a primary discovery tool in medical genetics. There is a growing consensus that whole-genome and/or whole-exome sequencing presents a critical opportunity to make rapid progress in identification of genetic variants that influence complex diseases. NGS studies however face a number of significant obstacles including the difficulty and cost associated with generating and annotating sequencing data, and this must then be followed by in depth analyses to identify true signals of risk amongst the many identified variants. Novel statistical methods and computational tools are necessary to extract useful information from the enormous amount of data, relate the variation to phenotype, assess the significance of the associations, incorporate population genetic factors such as population history, admixture, and natural selection, as well as identify sets of variants that may include functional variants.
M2K Genomics provides comprehensive informatics data sharing solutions and computational tools to meet scientists' increasing demands to deal with large and complex genomic, proteomic, and clinomic data in biomedical research for our customers by providing high quality services and consultations. We design data model and data warehouse for biomedical studies. And we also offer comprehensive solutions: NGS Customized Query and Report Development, NGS-QC Implementation Support and Data Warehouse Development to store, manage, protect, and analyze a variety of Big Data.