structural variation
dgmacarthur | January 4, 2010
The Gene Sherpa predicts that Complete Genomics will win the Archon X Prize in Genomics in 2010. In the comments, Keith Robison is wisely skeptical. I agree with Keith - it's unlikely that the X Prize will be won this year, and if it is the winner is unlikely to be Complete Genomics.
For those who don't know the prize, here's the brief summary: the X Prize Foundation will give US$10 million to the first team to satisfy the following conditions:
sequence 100 human genomes within 10 days or less, with
an accuracy of no more than one error in every 100,000 bases sequenced [note that the…
dgmacarthur | August 26, 2009Complete Genomics is finally back on the road towards fulfilling its promises of $5000 human genome sequences, after delays in obtaining funding for a massive new facility pushed back its plans by six months. The $45 million in funding it announced this week will be sufficient to build the new Silicon Valley facility, which the company claims will have the capacity to sequence a staggering 10,000 genomes over the course of 2010.
Complete Genomics is an unusual creature in the second-generation sequencing menagerie: instead of aiming to generate revenue by selling machines to researchers and…
dgmacarthur | June 11, 2009The buzz leading up to this week's Consumer Genetics Show in Boston suggested that a major announcement would be made by the CEO of genomics technology provider Illumina, Jay Flatley. Illumina provides the most popular second-generation sequencing instrument currently on the market, the Genome Analyzer II, and has been making noises about moving into the personal genomics industry since at least the beginning of the year, so the announcement itself was not exactly a shock: Illumina is launching a personal genome sequencing service.
The launch comes with a new website, the appealingly titled…
dgmacarthur | March 9, 2009Jan Aerts discusses the problem of incorporating information on large-scale genomic rearrangements into genome browsers.
Genome browsers such as UCSC and Ensembl are fantastic for presenting many types of genomic information, such as the position and orientation of protein-coding genes or the location of small-scale genetic variants. However, their linear arrangement makes it very difficult to use them to present large-scale genetic variations (duplications, deletions or inversions). This is a serious problem, as these types of genetic variants are surprisingly common in the human genome, and…