Gene variants in noncoding regions and their possible consequences

Pharmacogenomics
Guang-Ji WangHong-Guang Xie

Abstract

Human biodiversity or individual traits are not well explained by exonic mutations of all 20,000 known human genes. Accumulating evidence has demonstrated that not all noncoding regions are junk DNA sequences, and that some functionally important noncoding variants contribute significantly to altered gene expression, qualitatively or quantitatively. Thus, functional profiling or clinical relevance of noncoding variations should not be underestimated or ignored. To validate these concepts, some important examples are discussed further in this short review.

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Citations

Jan 11, 2008·Proceedings of the National Academy of Sciences of the United States of America·Andrej NikoshkovYasmin L Hurd
May 14, 2014·Progress in Neurobiology·Jean-François SchmouthGuy A Rouleau
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Oct 23, 2010·Pharmacology & Therapeutics·Hong-Guang XieShao-Liang Chen
Jun 16, 2015·BioMed Research International·Ana Paula GrilloCamila Andréa de Oliveira
Apr 12, 2013·Journal of Gastroenterology and Hepatology·Chang Mo MoonJae Hee Cheon
Mar 8, 2019·Neurology. Genetics·Vafa AlakbarzadeAndrew H Crosby
May 1, 2020·International Journal of Molecular Sciences·Jihye ParkJu Han Kim
May 31, 2012·Annals of Clinical Biochemistry·Nanfang LiZufeiya A

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Methods Mentioned

BETA
transfection
genotyping

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