Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

What do your genes have to do with growing old? Quite a lot. But is it due to the actual DNA, or the way those genes are expressed? KPBS sci-tech reporter Thomas Fudge has more on new research that ...

Explore the new AI model that links genetic mutations to disease outcomes, revolutionising genetic diagnosis and treatment.

Alphabet Inc.’s Google DeepMind today introduced AlphaGenome, a new artificial intelligence tool that can comprehensively predict how mutations or variants in human DNA sequences impact gene ...

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...

Characteristics of Clonal Hematopoiesis (CH) Mutations - a) We identified somatic mutations in known clonal hematopoiesis of indeterminate potential (CHIP) driver genes using peripheral blood ...

Mitochondria act as energy factories in cells and have their own, separate DNA. Mutations to mitochondrial DNA (mtDNA) have been observed in cancer, but it has been unclear how these changes might ...