A group of geneticists present mankind’s first “pangenome”. Bioinformatician Tobias Marschall explains why one should compare the genome of 47 people and what that means for medicine.
When the first transcript of a human genome was presented more than 20 years ago, there were a lot of gaps in it. And the patchwork was only of limited use as a reference for all of mankind. This is about to change: geneticists are trying to use the so-called pangenome to record the genetic diversity of mankind. The bioinformatician Tobias Marschall was involved in the work, which is now in the science journal Nature has appearedand explains what can be learned from the enormous mountain of data.