biotech

Overview Repeat expansion, a structural variation in which the number of tandem DNA sequences doubles, has long been associated with many genetic and neurological disorders. However, despite the well-documented contribution of tandem repeats (TRs) to genetic variation, TRs remain poorly understood and their impact on phenotypes and disease may be underestimated. This is largely attributable […]

Overview A large number of genetic variations and somatic mutations exist within human, plant, animal, or microorganism genomes. Genetic variation is associated with disease risk and phenotypic variation between individuals. In recent years, whole-exome sequencing (WES) has been a popular method for identifying the genetic basis of disease in research and clinical settings. However, because […]