Key points are not available for this paper at this time.
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.
Evan E. Eichler (Wed,) studied this question.