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Protective Alleles and Modifier Variants in Human Health and Disease

Overview
Journal Nat Rev Genet
Specialty Genetics
Date 2015 Oct 28
PMID 26503796
Citations 73
Authors
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Abstract

The combination of next-generation sequencing technologies and high-throughput genotyping platforms has revolutionized the pursuit of genetic variants that contribute towards disease. Furthermore, these technologies have provided invaluable insight into the genetic factors that prevent individuals from developing disease. Exploiting the evolutionary mechanisms that were designed by nature to help prevent disease is an attractive line of enquiry. Such efforts have the potential to generate a therapeutic target roadmap and rejuvenate the current drug-discovery pathway. By delineating the genomic factors that are protective against disease, there is potential to derive highly effective, genomically anchored medicines that assist in maintaining health.

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References
1.
Campbell I, Shaw C, Stankiewicz P, Lupski J . Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015; 31(7):382-92. PMC: 4490042. DOI: 10.1016/j.tig.2015.03.013. View

2.
Reveille J, Sims A, Danoy P, Evans D, Leo P, Pointon J . Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. 2010; 42(2):123-7. PMC: 3224997. DOI: 10.1038/ng.513. View

3.
Li X, Ominsky M, Warmington K, Morony S, Gong J, Cao J . Sclerostin antibody treatment increases bone formation, bone mass, and bone strength in a rat model of postmenopausal osteoporosis. J Bone Miner Res. 2008; 24(4):578-88. DOI: 10.1359/jbmr.081206. View

4.
Tebas P, Stein D, Tang W, Frank I, Wang S, Lee G . Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV. N Engl J Med. 2014; 370(10):901-10. PMC: 4084652. DOI: 10.1056/NEJMoa1300662. View

5.
Burchard E . Medical research: Missing patients. Nature. 2014; 513(7518):301-2. DOI: 10.1038/513301a. View