Post genomic decade--the epigenome and exposome challenges.

Area of Science:

• Genomics and Epigenetics
• Human Variation Research

Background:

• The human genome project generated vast DNA sequence data, enabling studies of human genetic variation.
• Previously underestimated complexity of genomic variations includes single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and epigenetic modifications.

Purpose of the Study:

• To explore the intricate landscape of human genomic diversity.
• To understand the role of epigenetics in gene expression regulation.
• To identify environmental factors influencing human health through genetic and epigenetic interactions.

Main Methods:

• Analysis of large-scale DNA sequence databases.
• Investigation of epigenetic mechanisms like DNA methylation, histone modifications, and non-coding RNAs (e.g., microRNAs).
• Correlating genomic and epigenomic data with phenotypic outcomes and disease states.

Main Results:

• Human genome variation is more complex than anticipated, involving both DNA sequence changes and epigenetic alterations.
• Epigenetic factors, including DNA methylation and histone acetylation, significantly regulate gene expression.
• Crosstalk between epigenetic elements influences the non-encoded regulation of gene expression.

Conclusions:

• Deciphering the full extent of human genomic and epigenomic diversity is the next frontier in genetics.
• Understanding the exposome (environmental exposures) is critical for comprehending its impact on health.
• Future research will focus on integrating genomic, epigenomic, and exposomic data to unravel disease mechanisms.