Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

Interview with Dr. Evan E. Eichler on genetic variation, comparative genomics, and the diagnosis of disease. (07:53)Download The genome is not akin to a string of fixed length. Many large segments of DNA may be present or absent — a major contributor to pathogenic genomic variation. New technologies in DNA sequencing are helping to uncover this type of variation, which often cannot be detected by standard DNA sequencing.