The Q100 project
Today, we are excited to release the v1.0 T2T assembly of the HG002 benchmark genome! This assembly is part of what we have dubbed the “Q100” project, or in other words, our quest to assemble a completely error-free human genome (in the Phred QV scale, Q100 equates to an error rate of 1 per 10 billion bases). The Genome in a Bottle consortium has released some tremendous resources over the years, including DNA reference materials such as HG002. However, these reference materials are currently defined as a list of variants called against the GRCh38 reference genome. A more natural representation is the complete sequence of the genome itself, i.e. a “genome benchmark” as opposed to a “variant benchmark”. This is our first step towards creating such a genome benchmark. We will have much more to say about this in the coming year, but for now you can find more information at the GitHub page linked above.