Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed ...

New genome sequencing algorithm boosts human genome completeness by 20%, improving variant detection and advancing personalized medicine.

How does our DNA store the massive amount of information needed to build a human being? And what happens when it's stored incorrectly? Jesse Dixon, MD, Ph.D., has spent years studying the way this ...

A deeper understanding of how DNA changes over generations helps scientists learn why people differ and how diseases develop. Until recently, many fast-changing parts of the human genome remained ...

Twenty-two years after the completion of the Human Genome Project, scientists have unveiled the most expansive catalog of human genetic variation ever compiled. Across two new papers published ...

DNA's double helix has long stood as the symbol of life’s code. But buried within the genome lies a deeper level of complexity. One of the more intriguing discoveries in recent years is the i-motif—a ...

Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint ...

DNA repair is essential for the maintenance of genomic stability and its failure can lead to human disease. Various DNA repair systems exist, such as base excision repair, nucleotide excision repair, ...

Researchers have used a new human reference genome, which includes many duplicated and repeat sequences left out of the original human genome draft, to identify genes that make the human brain ...

An international research team has extracted genome-wide ancient DNA from two 7,000-year-old mummified women buried in a Libyan rock shelter, identifying a deeply divergent human lineage that appears ...