GWAS works backwards in relationship on how pathophysiology is discovered. Given a big dataset of genes, we could do a cross-section of mutations and see the SNPs present in patients with a disease, study the mutations and determine if it’s protective or a risk factor for a disease. Then the loci is studied and make inferences on how the alteration on how the molecular physiology is altered. When the variant is non-coding, it’s more likely that gene expression is altered by disrupting transcription binding motifs or altering chromating interactions.

Gary Javier Espitia Sudea
Gary Javier Espitia Sudea
MD, MBI

My research interests genetics, bioinformatics, scientometrics and statistics.