The first ever post on the new group blog I announced yesterday, Genomes Unzipped, is now live: it’s Luke Jostins of Genetic Inference talking about the importance of sequencing for the future of personal genomics. Here’s a taste:
There is a particular type of variation that genotype chips can never get at, the type of variation that most people will find most interesting: variation that is unique to you, or to your family. If you get sequenced now, about 200,000 single-base variants in your genome will never have been seen before, ever. These are likely to include changes that modify proteins in a unique way, that may make them act differently in your cells. A big proportion of indels and structural variants will be novel, and these can include strange and exotic things: genes that have been swapped around, jumbled up, fused together, or deleted entirely. There may well be stretches of DNA, hundreds of base pairs long or longer, that have never been observed in another human. Regardless of how “useful” these personal oddities are, to be able to look directly at new genomic discoveries that live inside you makes them invaluable.
Read the rest here.