Science reaches another genomic milestone
The human genome was first sequenced in April 2003. Although it has been possible to reliably obtain 92% of the DNA sequence, the remaining 8% has alluded scientists up until now.
With this “100%” genome sequence, we are able to map those last few missing pieces of the human genome jigsaw puzzle. This may allow us to understand the full range of human genetic variability and how that might be impacting on risk to different diseases and pharmacogenomics.
It was great to see the authors of this work (https://www.science.org/content/article/most-complete-human-genome-yet-reveals-previously-indecipherable-dna) acknowledge that “the field now needs to get similarly complete genome sequences from a greater diversity of people… …which could play a role in diseases or traits“.
Future Genetics celebrates this mindset as it aligns to our focus on health and disease in different populations, pharmacogenomics and our longstanding commitment to diversity and inclusion.