Journal of Leisure 閒記

It is indeed very hard to keep a homepage up-to-date. I couldn't count how many homepages I have created and then given up . As a result, I decided to write a blog, because it is much more easier to manage so I presume I will update it more often. But keeping a not-so-updated blog just means no one is going to read it. So I also decided to write something here that describes my daily life best, just to keep it not-so-outdated :-)
It's been a hard day's night
And I've been working like a dog
It's been a hard day's night
I should be sleeping like a log

Tuesday, March 13, 2012

Performance comparison of whole-genome sequencing platforms

Whole-genome sequencing is becoming commonplace, but the accuracy and completeness of variant calling by the most widely used platforms from Illumina and Complete Genomics have not been reported. We sequenced the genome of an individual with both technologies to a high average coverage of ~76X, and compared their performance with respect to sequence coverage and calling of single-nucleotide variants (SNVs), insertions and deletions (indels). Although 88.1% of the ∼3.7 million unique SNVs were concordant between platforms, there were tens of thousands of platform-specific calls located in genes and other genomic regions...


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