Aspects of coverage in medical DNA sequencing.

BMC Bioinformatics. 2008 May 16;9:239.


DNA sequencing is now emerging as an important component in biomedical studies of diseases like cancer. Short-read, highly parallel sequencing instruments are expected to be used heavily for such projects, but many design specifications have yet to be conclusively established. Perhaps the most fundamental of these is the redundancy required to detect sequence variations, which bears directly upon genomic coverage and the consequent resolving power for discerning somatic mutations.


Wendl MC, Wilson RK.

Institute Authors

Michael Wendl, Ph.D.