Recent Advance in Biomedical Omics Data Analysis| Biomed Grid

Sequencing technology is dominant in the study of complex human genetic diseases. Identified risk genes and other biomarkers will make genetic counselling, risk assessment and avoidance, and disease diagnosis and treatment possible. Benefit from the discovered biomarkers, many diseases could be accurate diagnosed and prevented, as well as accurate treated. Nevertheless, the molecular mechanisms of many neuropsychiatric disorders are still unclear and there are no effective treatments for these neuropsychiatric disorders. The rapid development of whole genome sequencing technology, large amounts of genetic data are generated concerning larger cohorts with diverse neuropsychiatric disorders [1], making it possible to detect various genetic variants, i.e. SNVs, InDels, and SVs. Genetic research of these disorders are focused on genome-wide association analysis (GWAS), pedigree analysis, twin family studies, trio family studies, etc., Over the last decades, GWAS have identified several hundred loci for neuropsychiatric disorders successfully [2,3]. Whole exome/ genome sequencing have greatly facilitated the identification of risk de novo variants [4]. Besides, with the increasing amount of patient cohorts, more and more risk mutations have been discovered [5].