Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Scientists have created a new technique that can assess how mutations in the genome influence the packaging of DNA in cells. The genome is massive, and has to be carefully wrapped around proteins so ...

Scientists have created a mega-database revealing how half a million different DNA mutations generate errors in proteins in humans. The researchers hope that the database will be used to develop new, ...

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 ...

Researchers found a way to screen cancer-linked gene mutations much more easily and quickly than existing approaches, using a variant of CRISPR genome-editing known as prime editing. Tumors can carry ...

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 ...

A new long-read sequencing technique has helped researchers investigate how DNA mutations arise in a variety of contexts. A collaboration of researchers led by NYU Langone Health and NYU Grossman ...