Abstract: Most genetic research focuses on “additive” traits, where having one faulty gene copy slightly raises your risk for a disease. However, many of the most powerful health impacts are “recessive,” meaning they only show up if both your maternal and paternal gene copies are affected. These individuals are known as “human knockouts.” Because these people are incredibly rare, scientists have struggled to find enough of them to understand how these double-mutations cause things like heart failure or height differences. Without this data, we are missing a massive part of the puzzle in how the human body works.
To solve this, researchers didn’t just look at one country; they linked six global biobanks together, creating a massive pool of nearly 1,000,000 people. They used a high-tech “phasing” method to scan the DNA and see exactly which mutations sat on which gene copy. This digital detective work allowed them to find 19% more “double-mutations” than ever before. By comparing this data against electronic health records, they discovered 58 significant links to diseases that were previously invisible. This global collaboration proves that when we pool our data, we can find cures for rare conditions that no single nation could solve alone.
Read the full article here: https://www.sciencedirect.com/science/article/pii/S0002929726001552
