Many of the most severe mutations identified in patients with autism affected proteins that work together in one large interconnected network.
HHMI scientists suggest that as many as 20 percent of sporadic autism cases can be explained by spontaneous gene mutations.
A new analysis of gene duplication across the human genome reveals far more variation in gene copy number than anticipated.
Jumping genes, thought to have settled down over millions of years of evolution, may be an ongoing source of genetic variation between individuals.
Scientists have uncovered thousands of DNA segments that were missing from the reference sequence of the human genome.
HHMI researchers and their colleagues unveil the first comparative map of four primate genomes.
Researchers have produced the first high-resolution map showing the structural variation that exists in the human genome.
People who lack a certain large segment of DNA have a previously unrecognized syndrome characterized by mental retardation, seizures, and slight physical abnormalities.
A major new research effort is now beginning to uncover the structural variations in DNA that contribute to genetic differences between humans.
HHMI researchers map the fine details of the many chromosomal breaks and rearrangements that have reshaped the white-cheeked gibbon's genome.
Comparisons of the human genome and the newly completed draft of the chimpanzee genome have unearthed major differences between the patterns of large duplicated segments of DNA in the two species.