From BITS wiki
Send a DNA sample to Complete Genomics (CG) for sequencing and you get a hard disk back delivered by mail! VIB cooperates with CG to sequence complete genomes of humans.
This shifts the main occupancy of the scientist from sequencing to analyzing.
- A common genome consists of 5-7 billion paired-end reads (10^9) corresponding to an assembled size of 150-200 giga bases (10^9 bps)
- The genome coverage (coverage width = fraction of the current reference genome where reads are mapped) is generally 95-97% but can be less in the case of genomes for which sequence quality is low or structural rearrangements are very broad (tumors).
- The coverage depth (number of reads supporting any given base of the reference genome) can be expressed in several different ways but is generally comprised between 30x and 50x (with a lot of variability induced by the nature of the underlying sequence; eg repeats or monotonous polynucleotide tracks lead to lower apparent coverage due to mapping difficulties).
CG Data Analysis tools
- CGA Analysis tools - Open-source software developed by CG for direct downstream analysis. Freely available for lot of platforms through SourceForge
- Real Time Genomics - Commercial software which is the only one (until now, July 2010) that can handle CG reads.