Abstract
Changes in the structure of biological macromolecules, such as RNA and
protein, have an important impact on biological functions, and are even
important determinants of disease pathogenesis and treatment. Some
genetic variations, including copy number variation, single nucleotide
variation, and so on, can lead to changes in biological function and
increased susceptibility to certain diseases by changing the structure
of biological macromolecules. Here, we reviewed the progress of research
about the effects of genetic variation on the structure of
macromolecules including RNAs and proteins, several typical methods and
common tools, and the effect on several diseases. An online resource
(http://www.onethird-lab.com/gems/) to support convenient retrieval of
common tools is also built. Finally, the challenges and future
development of effect prediction were discussed.