Research Urges Focus On Noncoding Genome In Rare Diseases
The genetic basis of disease has largely focused on coding regions. However, it has become clear that a large proportion of the noncoding genome is functional and harbors genetic. In this review, we focus on recent examples of genetic variation in these noncoding functional elements, their relevant underlying molecular mechanisms, and their contribution to. Our increased understanding of the genetic basis of rare diseases (rd) has had a profound impact on medicine and basic research; Diagnostic pathways have been streamlined.
However, the diagnostic yields of many studies,. Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is. Our study demonstrates a synergy by using wgs for diagnosis and aetiological discovery in routine healthcare.