Evaluation of regulatory small variants in human genetics

Abstract
Next Generation Sequencing has become a basis for the detec- tion of small sequence variants in whole exomes and whole genomes. The correct interpretation of the relevance of iden- tified variants is a major challenge in clinical diagnostics. For coding single nucleotide variants, published standards and guide- lines have been widely adopted by clinical laboratories. The majority of disease-associated variants, however, are found in non- coding regions, suggesting that they affect the regulation of gene expression. Their analysis and reliable evaluation is methodically challenging and so far not standardized. This talk will provide an overview of recent developments in the assessment of potential regulatory variants.
http://dx.doi.org/10.1016/j.bdq.2017.02.035