Advances in Functional Genomics for Human Health

Area of Science:

• Genetics
• Genomics
• Molecular Biology

Background:

• Cytogenomic assays like karyotyping and FISH have identified genetic abnormalities linked to various clinical phenotypes.
• However, many detected abnormalities in intergenic regions lack clear clinical significance, often termed the genome's
• dark matter
• .

Purpose of the Study:

• To review the application of functional genomics in understanding the clinical implications of intergenic genomic abnormalities.
• To highlight how functional genomics can elucidate the role of non-coding DNA in human health.

Main Methods:

• Review of existing literature on functional genomics and cytogenomic findings.
• Focus on studies investigating intergenic abnormalities and their impact on gene regulation and disease.

Main Results:

• Functional genomics can robustly explore the clinical implications of intergenic abnormalities.
• Examples include diseases like preaxial polydactyly (SHH gene), Pierre Robin syndrome (SOX9), and 5q14.3 microdeletion syndrome (MEF2C).
• Functional genomics aids in understanding disruptions to topologically associating domains (TADs) and regulatory regions.

Conclusions:

• Functional genomics offers a powerful approach to decipher the clinical significance of genetic variations in previously uncharacterized genomic regions.
• Leveraging functional genomics in intergenic regions is crucial for advancing human health and diagnosing genetic disorders.