Beyond the genome and into the clinic.docVIP

Segal Genome Medicine 2012,4:78 /content/4/10/78 MEE TING REPORT Beyond the genome and into the clinic David J Segal* (indels), because only part of an indel-spanning read will Abstract map perfectly to the reference genome (Gabor Marth, Boston College, USA). A related challenge is repeated sequences: the ‘dark matter’ that makes up most of the human genome and the Achilles heel of short-read sequencing. One solution is to include long, although currently error-prone, reads from platforms such as PacBio in such a way that the combined dat