In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...

For many years, scientists have known that genetic variants, or differences in DNA code across people, play some role in neurological and psychiatric disorders. But the details were murky. Now, ...

For decades, biologists have known that the instructions for life are written in DNA, yet the vast majority of those letters seemed to sit in the dark, doing little that was obvious. Now a new ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Scientists have long suspected connections between heredity and disease, dating back to Hippocrates, who observed certain diseases ‘ran in families’. However, through the years, scientists have kept ...