Applying in silico integrative genomics to genetic studies of human disease

Abstract

As genome-wide association studies using common single nucleotide polymorphism microarrays transition to whole-genome sequencing and the study of rare variants, new approaches will be required to viably interpret the results given the surge in data. A common strategy is to focus on biological hypotheses derived from sources of functional evidence ranging from the nucleotide to the biochemical process level. The accelerated development of biotechnology has led to numerous sources of functional evidence in the form of public databases and tools. Here, we review current methods and tools for integrating genomic data, particularly from the public domain, into genetic studies of human disease.