From Genomes to Variant Interpretations Through Protein Structures

Abstract

The large amount of genetic, phenotypic, and structural data from diverse conditions and environments offers opportunities for new groundbreaking research. Today, the major scientific task is to interpret the vast number of genetic variants within these data. As described in this chapter, identifying relevant variants and connecting them with the associated protein structural and environmental information is a powerful approach to biological discoveries. The unified view of the data brings us a step closer to understanding genetic variation, which is also fundamental for achieving the goals of personalized medicine and the planet’s environment.