@article {151,
	title = {Non-coding genetic variants in human disease.},
	journal = {Hum Mol Genet},
	volume = {24},
	year = {2015},
	month = {2015 Oct 15},
	pages = {R102-10},
	abstract = {<p>Genetic variants, including single-nucleotide variants (SNVs) and copy number variants (CNVs), in the non-coding regions of the human genome can play an important role in human traits and complex diseases. Most of the genome-wide association study (GWAS) signals map to non-coding regions and potentially point to non-coding variants, whereas their functional interpretation is challenging. In this review, we discuss the human non-coding variants and their contributions to human diseases in the following four parts. (i) Functional annotations of non-coding SNPs mapped by GWAS: we discuss recent progress revealing some of the molecular mechanisms for GWAS signals affecting gene function. (ii) Technical progress in interpretation of non-coding variants: we briefly describe some of the technologies for functional annotations of non-coding variants, including the methods for genome-wide mapping of chromatin interaction, computational tools for functional predictions and the new genome editing technologies useful for dissecting potential functional consequences of non-coding variants. (iii) Non-coding CNVs in human diseases: we review our emerging understanding the role of non-coding CNVs in human disease. (iv) Compound inheritance of large genomic deletions and non-coding variants: compound inheritance at a locus consisting of coding variants plus non-coding ones is described.</p>},
	keywords = {Animals, Disease, DNA Copy Number Variations, Genetic Variation, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Regulatory Sequences, Nucleic Acid},
	issn = {1460-2083},
	doi = {10.1093/hmg/ddv259},
	author = {Zhang, Feng and Lupski, James R}
}
