ABSTRACT

Human genomics has revolutionized the research on the molecular basis of human diseases and phenotypes. The current and future challenges for many researchers involve the analysis of high-volume and complex data. In this book, multiple experts in bioinformatics from around the world have written several chapters about key aspects of bioinformatics applied to human genomics research. In future years, the role of open data and open software in human genomics research will be even more important. Currently, there is a large amount of available data derived from high throughput studies, which are useful for secondary analysis and for integration through several approaches, including data mining, which has been a powerful approach in human genomics. It allows generating new results and knowledge by extracting information from different datasets. Publicly available genome-wide information, with an adequate annotation will continue to facilitate the identification and confirmation of genes and pathways for human diseases and related phenotypes. An adequate training of biological and biomedical researchers in basic advanced strategies of bioinformatics and computational biology is of key importance.