Detection and impact of rare regulatory variants in human disease

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 conte...

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Bibliographic Details
Main Authors: Xin eLi, Stephen B Montgomery
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-05-01
Series:Frontiers in Genetics
Subjects:
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00067/full