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 ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Myeloid leukemias are among the most aggressive blood cancers and have low survival rates. Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate ...

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

Yale researchers are sifting through a mosaic of cells in a living animal — both normal cells and mutated cells — to better understand how cancer grabs a foothold. But they’re starting by studying ...

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 ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...