Human genome variations: databases and bioinformatics resources

Abstract

The advent of next-generation sequencing technology enabled population scale human genome projects. Contemporary development of high-throughput genotyping arrays contributed to deep characterizing of each of 3.2 billion bases of human genome. To host this vast amount of genetic variants data, large scalable and fast searchable databases and bioinformatic tools for variant annotations and analyses have been developed in the last decade. The databases and computational resources for genetic variants facilitated novel discoveries and observations across many disciplines of biology and medicine, such as the pattern of evolution, speciation, pharmacology, and last but not the least, genetic bases of human health and diseases. This article puts forth the databases and computational resources for human genome analysis.