A 25-year odyssey of genomic technology advances and structural variant discovery. (https://pubmed.ncbi.nlm.nih.gov/38290514/)

These scientists wanted to learn more about the different ways our genes can change and how it affects our health. They looked at the technology that scientists have been using to study genes for the past 25 years. They found that there have been big improvements in the tools scientists use to look at our genes.

First, they used something called microarrays, which is like a special microscope that can look at many genes at once. Then, they started using something called short-read sequencing, which is like a super fast camera that can take pictures of our genes. And now, they are using something called long-read sequencing, which is even better at taking pictures of our genes.

Each of these technologies helped scientists see different types of changes in our genes. But now, the scientists are working on a new technology that can see all types of changes in our genes at once. This is really exciting because it means we can learn even more about how our genes work and how they can affect our health.

By using this new technology, the scientists think they will be able to find out a lot more about how our genes change over time. This will help us understand more about how our bodies work and why some people might get sick. It's like solving a puzzle - the more pieces we have, the better we can understand the whole picture.

Porubsky D., Eichler EE. A 25-year odyssey of genomic technology advances and structural variant discovery. Cell. 2024 Jan 23:S0092-8674(24)00004-7. doi: 10.1016/j.cell.2024.01.002.