%A Li,Xin %A Montgomery,Stephen %D 2013 %J Frontiers in Genetics %C %F %G English %K rare variant,Genetics of Gene Expression,RNA-sequencing,Mendelian disorders,eQTLs,Allele specific expression %Q %R 10.3389/fgene.2013.00067 %W %L %M %P %7 %8 2013-May-31 %9 Review %+ Dr Xin Li,Stanford University,Departments of Pathology and Genetics,300 Pasteur Drive,Stanford,94305-5324,CA,United States,xli6@stanford.edu %+ Dr Stephen Montgomery,Stanford University,Departments of Pathology and Genetics,300 Pasteur Drive,Stanford,94305-5324,CA,United States,smontgom@stanford.edu %# %! Detection and impact of rare regulatory variants in human disease %* %< %T Detection and Impact of Rare Regulatory Variants in Human Disease %U https://www.frontiersin.org/articles/10.3389/fgene.2013.00067 %V 4 %0 JOURNAL ARTICLE %@ 1664-8021 %X Advances in genome sequencing are providing unprecedented resolution of rare and private variants. However, methods which assess the effect of these variants have relied predominantly on information within coding sequences. Assessing their impact in non-coding sequences remains a significant contemporary challenge. In this review, we highlight the role of regulatory variation as causative agents and modifiers of monogenic disorders. We further discuss how advances in functional genomics are now providing new opportunity to assess the impact of rare non-coding variants and their role in disease.