Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease.

Abstract:

:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous genetic variations associated with specific human diseases, the majority of which map within non-coding regions of the genome. In parallel, whole-genome studies focused on the role of gene regulatory epigenetic modifications such as DNA methylation and histone modifications are providing a conceptual framework for understanding the functional significance of sequence variation in human disease. This review highlights selected recent development in epigenetics and discusses their implications with respect to the identification of functional or novel single nucleotide polymorphisms.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Zaina S,Lund G

doi

10.1111/j.1399-0004.2011.01840.x

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

334-40

issue

4

eissn

0009-9163

issn

1399-0004

journal_volume

81

pub_type

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