Whole-genome sequencing and in-silico approaches to identify the genetic basis of rare diseases
To a greater or lesser extent, genetics plays a role in all diseases. Variations in our DNA and differences in how that DNA functions, coupled with our environment, lead to disease. It investigates the genetic basis of human disease, including single-gene disorders, chromosomal imbalances, epigenetics, cancer, and complex disorders, as well as how our understanding and technological advances can be applied to the provision of appropriate patient diagnosis, management, and therapy. Mutations that alter splicing play a significant role in rare diseases but are often overlooked by diagnostic sequencing pipelines. Increasing our understanding of pathogenic splicing variants will lead to better diagnostic yields for patients and their families, and will improve treatment and care strategies. Although recent advances in sequencing technologies, predictive modeling, and understanding of splicing mechanisms have made it possible to detect and interpret splice affecting variants more accurately, several limitations still prevent their routine ascertainment in diagnostic testing.
Sudheer Menon. Whole-genome sequencing and in-silico approaches to identify the genetic basis of rare diseases. International Journal of Advanced Scientific Research, Volume 6, Issue 5, 2021, Pages 7-13