Journal
TRENDS IN GENETICS
Volume 36, Issue 11, Pages 880-891Publisher
CELL PRESS
DOI: 10.1016/j.tig.2020.07.004
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Funding
- National Health and Medical Research Council of Australia (NHMRC) [1120563, 1122022]
- NHMRC [1135932]
- National Health and Medical Research Council of Australia [1122022, 1120563, 1135932] Funding Source: NHMRC
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The genetic basis of disease has largely focused on coding regions. However, it has become clear that a large proportion of the noncoding genome is functional and harbors genetic variants that contribute to disease etiology. Here, we review recent examples of inherited noncoding alterations that are responsible for Mendelian disorders or act to influence complex traits. We explore both rare and common genetic variants and discuss the wide range of mechanisms by which they affect gene regulation to promote disease. We also debate the challenges and progress associated with identifying and interpreting the functional and clinical significance of genetic variation in the context of the noncoding regulatory landscape.
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