Article
Intergenic disease-associated regions are abundant in novel transcripts.
Genome biology - 28 Dec 2017
Bartonicek N, Clark M B, Quek X C, Torpy J R, Pritchard A L, Maag J L V, Gloss B S, Crawford J, Taft R J, Hayward N K, Montgomery G W, Mattick J S, Mercer T R, Dinger M E
Abstract excerpt
BACKGROUND: Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation. While some of these risk-susceptibility...
Topics
- DNA, Intergenic
- Databases, Nucleic Acid
- Genetic Association Studies
- Genetic Loci
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Introns
- Melanoma
- Polymorphism, Single Nucleotide