A deep catalogue of protein-coding variation in 983,578 individuals. (https://pubmed.ncbi.nlm.nih.gov/38768635/)
These scientists looked at a lot of information from many different people to learn more about our genes, which are like instructions that tell our bodies how to work. They studied the codes within our genes that can have a big impact on how our bodies function. To do this, they used a special technique called exome sequencing on almost a million individuals from different backgrounds. They found over 10 million variations in the codes that make proteins in our bodies.
The scientists discovered that some people have rare changes in their genes that can cause problems. They found thousands of these changes in genes that were not known before. They also found genes that are very important for our bodies and should not have changes in them. They even found some genes that can tolerate certain changes but not others.
From their study, they estimated that about 3% of people have a gene variation that could affect their health. They also found many variations that could be harmful but were not known before. To help doctors and researchers understand these findings better, they created a tool that shows all this information to the public. This will help in developing personalized treatments based on a person's genetic makeup.
Sun KY., Bai X., Chen S., Bao S., Zhang C., Kapoor M., Backman J., Joseph T., Maxwell E., Mitra G., Gorovits A., Mansfield A., Boutkov B., Gokhale S., Habegger L., Marcketta A., Locke AE., Ganel L., Hawes A., Kessler MD., Sharma D., Staples J., Bovijn J., Gelfman S., Di Gioia A., Rajagopal VM., Lopez A., Varela JR., Alegre J., Berumen J., Tapia-Conyer R., Kuri-Morales P., Torres J., Emberson J., Collins R., Cantor M., Thornton T., Kang HM., Overton JD., Shuldiner AR., Cremona ML., Nafde M., Baras A., Abecasis G., Marchini J., Reid JG., Salerno W., Balasubramanian S. A deep catalogue of protein-coding variation in 983,578 individuals. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0.