Genetic Mapping in Human Disease

Genetic Mapping in Human Disease

2008 November 7; 322(5903): 881–888. doi:10.1126/science.1156409. | David Altshuler1,2,3,4,5,* , Mark J. Daly1,2,5,* , and Eric S. Lander1,6,7,8,*
The article provides a comprehensive overview of genetic mapping in human disease, discussing the historical development, current methods, and future challenges. It begins by explaining the intellectual foundations of genetic mapping, including linkage analysis and genome-wide association studies (GWAS). The authors highlight the limitations of candidate gene approaches and the success of GWAS in identifying common variants associated with various diseases. They discuss the importance of understanding the genetic architecture of common diseases, the role of rare variants, and the need for large sample sizes to detect rare events. The article also addresses the implications of genetic mapping for biology, medicine, and society, emphasizing the importance of ethical considerations and the potential for personalized medicine. Finally, it outlines key steps for advancing genetic mapping, such as expanding clinical studies, resequencing disease loci, and integrating environmental factors.The article provides a comprehensive overview of genetic mapping in human disease, discussing the historical development, current methods, and future challenges. It begins by explaining the intellectual foundations of genetic mapping, including linkage analysis and genome-wide association studies (GWAS). The authors highlight the limitations of candidate gene approaches and the success of GWAS in identifying common variants associated with various diseases. They discuss the importance of understanding the genetic architecture of common diseases, the role of rare variants, and the need for large sample sizes to detect rare events. The article also addresses the implications of genetic mapping for biology, medicine, and society, emphasizing the importance of ethical considerations and the potential for personalized medicine. Finally, it outlines key steps for advancing genetic mapping, such as expanding clinical studies, resequencing disease loci, and integrating environmental factors.
Reach us at info@study.space