domingo, 10 de diciembre de 2023

An expanded genomic database for identifying disease-related variants. Ryan S Dhindsa et al. Nature 2023 12

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=archive&date=12/07/2023 From the article: " Scientists have long suspected that many disease-causing genetic mutations reside in the 98% of the genome that does not encode proteins, especially in regions that have roles in regulating gene expression. However, it has been challenging to differentiate systematically between harmful and neutral mutations, partly because researchers lack a clear picture of which stretches of the non-coding genome are essential for human health. A recent study addresses this challenge, introducing a tool that analyze large collections of human genomes to identify non-coding regions with greatest potential to cause disease."

No hay comentarios: