From big biological data to big discovery: The past decade and the future

Abstract

The quick accumulation of biological and medical big data is an important characteristic of current life sciences. Typical representatives of such big data are omics data obtained with the so-called next-generation sequencing or NGS technology, including genomic data, epigenomic data, metagenomic data, transcriptomics data, etc. The amount of data is overwhelming, but our key interest is whether such big data can lead to big discovery on the rules or mechanisms behind life. The question “how will big pictures emerge from a sea of biological data” was asked as one of the 125 most challenging questions by the Science magazine in 2005. Now more than ten years have passed. This article provides a brief review and perspective on the development of next-generation DNA sequencing technology in the past decade, as well as its applications and impacts on the fields of medical genetics, synthetic biology, precision medicine and microbiome studies. The big biological data have already brought new discoveries in biology although yet more will be expected and such discoveries have already shown promising applications in medical practices. The wide availability of DNA sequencing especially its rapidly decreasing cost is revolutionizing the study of genetic diseases. Large-scale genome-wide association studies (GWAS) and exome-sequencing studies have discovered many genes that are associated with many types of diseases. Some have already began to be used in clinical diagnosis. Accompanying the development of technologies for reading genomes, the genome editing technology shows the other side of the story: editing and writing genomes. Such technologies are enabling the systematic understanding of complex biological systems, and point to promising new approaches for disease treatment and prevention. Cancer studies are a major field that benefited the most from omics data. People are gaining more and more understanding in the development of cancer, and new taxonomy of cancer types based on genomic and epigenomic data brings the hope toward the goal of precision medicine. NGS also brought big data of metagenome of human microbiomes. Such data have revealed the importance of microbiota to many aspects of human health. Big biological data have brought many advancement in life sciences and will lead to more scientific breakthroughs in the future. To achieve this, bioinformatics has been playing a major role in turning data to information, and turning information to knowledge. Omics data are only type of the data for human health. Phenotypical data including data in medical records are equally or more important. It can be expected that the integrative analyses of omics data and medical phenotype data will bring more new discoveries for precision medicine research and practice. Methodology research on integrating and mining big biological and medical data will be crucial for such discoveries.