Next Generation Sequencing

Illumina have announced that their scientists have sequenced the genome of an anonymous African male (Yoruba from Ibadan, Nigeria), using the Genome Analyzer.

Apparently this was a sample from the HapMap project. First analysis found a 90% coverage of the genome and claims to have discovered a million new SNP’s and to have confirmed the presence of 2.5 million previously known SNP’s.

It has been an open question how a short read technology like Illumina’s would perform in resolving a complex genome like the human one. Illumina will answer this later in the year, when they have completed some additional analysis work using both long- and short-insert read pairs to characterize known and novel structural variation in this genome.