PMID:21350909

Citation	Gong, S , Worth, CL , Cheng, TM and Blundell, TL (2011) Meet me halfway: when genomics meets structural bioinformatics. J Cardiovasc Transl Res 4:281-303
Abstract	The DNA sequencing technology developed by Frederick Sanger in the 1970s established genomics as the basis of comparative genetics. The recent invention of next-generation sequencing (NGS) platform has added a new dimension to genome research by generating ultra-fast and high-throughput sequencing data in an unprecedented manner. The advent of NGS technology also provides the opportunity to study genetic diseases where sequence variants or mutations are sought to establish a causal relationship with disease phenotypes. However, it is not a trivial task to seek genetic variants responsible for genetic diseases and even harder for complex diseases such as diabetes and cancers. In such polygenic diseases, multiple genes and alleles, which can exist in healthy individuals, come together to contribute to common disease phenotypes in a complex manner. Hence, it is desirable to have an approach that integrates omics data with both knowledge of protein structure and function and an understanding of networks/pathways, i.e. functional genomics and systems biology; in this way, genotype-phenotype relationships can be better understood. In this review, we bring this 'bottom-up' approach alongside the current NGS-driven genetic study of genetic variations and disease aetiology. We describe experimental and computational techniques for assessing genetic variants and their deleterious effects on protein structure and function.
Links	PubMed Online version:10.1007/s12265-011-9259-1
Keywords	Animals; Computer Simulation; DNA Mutational Analysis; Databases, Genetic; Gene Regulatory Networks; Genetic Predisposition to Disease; Genetic Variation; Genomics/methods; High-Throughput Nucleotide Sequencing; Humans; Models, Molecular; Mutation; Phenotype; Protein Conformation; Protein Stability; Proteins/chemistry; Proteins/genetics; Structure-Activity Relationship; Systems Biology; Systems Integration
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Phenotype of	Taxon Information	Genotype Information (if known)	Condition Information	OMP ID	OMP Term Name	ECO ID	ECO Term Name	Notes	Status
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