Non-coding genetic variants in human disease: Figure 1.

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…

• NN
  National Natural Science Foundation of China

  Awards: 31171210, 81222014, 12SG08
• IA
  Intellectual and Developmental Disabilities Research Center
• NK
  National Key Research and Development Program of China

  Awards: 2011CBA00401, 2012CB944600
• NH
  National Human Genome Research Institute
• NI
  National Institute of General Medical Sciences

  Award: R01GM106373
• NI
  National Institute of Neurological Disorders and Stroke

  Award: R01NS058529