Abstract
Human genome epidemiology, progress and future
Highlights
Human genome epidemiology (HuGE) uses systematic applications of epidemiologic methods to assess the impact of human genetic variation on health and disease
We suggest that more efforts should be taken on regions identified as relevant to diseases through genomewide association studies (GWAS) using a targeted region approach, which has been shown as an efficient and cost-effective screening for rare and low-frequency polymorphisms to expand the disease variance explained[11]
In addition to the issues discussed above, rare variants, epistasis, epigenetics and genotype-environment interactions may contribute to the missing heritability[12]
Summary
Human genome epidemiology (HuGE) uses systematic applications of epidemiologic methods to assess the impact of human genetic variation on health and disease. In addition to the issues discussed above, rare variants, epistasis, epigenetics and genotype-environment interactions may contribute to the missing heritability[12]. As compared with the identified common variants by GWAS (in general, minor allele frequency is more than 5%), rarer variants that are poorly detected by available genotyping arrays.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
