Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants

Abstract

Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Sys-tematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to iden-tify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.