title: [Strategies of genome-wide association study based on high-throughput sequencing].
abstract: Genome-wide association studies (GWASs) have been playing an important role on human complex diseases. Generally speaking, GWAS tries to detect the relationship between genome-wide genetic variants and measurable traits in the population level. Although fruitful, array-based GWASs still exist some problems, for example, the so-called missing heritability--significantly associated SNPs can only explain a small part of phenotypic variation. Other problems include that, in some traits, significantly associated SNPs in one study are hard to be repeated by other studies; and that the functions of significantly associated SNPs are often difficult to interpret. High-throughput sequencing, also known as next-generation sequencing (NGS), could be one of the most promising technologies to solve those problems by quickly producing accurate variations in a high-throughput way. NGS-based GWASs (NGS-GWAS), to some extent, provide a better solution compared with traditional array-based GWASs. We systematically review the strategies and methods for NGS-GWASs, pick out the most feasible and efficient strategies and methods for NGS-GWASs, and discuss their applications in personalized medicine.
authors.forename: Jiapeng
authors.initials: J
authors.lastname: Zhou
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Pei
authors.forename: Yubao
authors.initials: Y
authors.lastname: Chen
authors.forename: Runsheng
authors.initials: R
authors.lastname: Chen
mesh_terms: D059472:Exome; D055106:Genome-Wide Association Study; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020641:Polymorphism, Single Nucleotide