Fine mapping with epigenetic information and 3D structure.
Gisela OrozcoPublished in: Seminars in immunopathology (2022)
Since 2005, thousands of genome-wide association studies (GWAS) have been published, identifying hundreds of thousands of genetic variants that increase risk of complex traits such as autoimmune diseases. This wealth of data has the potential to improve patient care, through personalized medicine and the identification of novel drug targets. However, the potential of GWAS for clinical translation has not been fully achieved yet, due to the fact that the functional interpretation of risk variants and the identification of causal variants and genes are challenging. The past decade has seen the development of great advances that are facilitating the overcoming of these limitations, by utilizing a plethora of genomics and epigenomics tools to map and characterize regulatory elements and chromatin interactions, which can be used to fine map GWAS loci, and advance our understanding of the biological mechanisms that cause disease.
Keyphrases
- genome wide association
- genome wide
- copy number
- dna methylation
- bioinformatics analysis
- genome wide association study
- air pollution
- gene expression
- high density
- transcription factor
- high resolution
- dna damage
- systematic review
- emergency department
- randomized controlled trial
- health information
- oxidative stress
- social media
- mass spectrometry