Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 nd in the open-access journal ...

Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely ...

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 ...

The human genome is organised in 46 chromosomes, where all but the x and y chromosomes in men are present in two copies. This means that a person with a faulty gene on one chromosome most often has a ...

A watercolor artist’s interpretation of the relationship between the human genome and gut mycobiome. Created by Amy Bean, watercolor journalist and mom of first author Emily Van Syoc. Clinicians’ ...

Next-generation sequencing technologies have catapulted the field of genomics back into the spotlight thanks to fast, accurate, and historically low-cost sequencing methods. As of today, the cost of ...

“The important part of the work is the large number of [exomes],” Stephen Scherer, who studies variation in the human genome at the Hospital for Sick Children and the University of Toronto, Canada, ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...

A team led by researchers at UCLA and the University of Pennsylvania has produced a first-of-its kind catalog of gene-isoform variation in the developing human brain. This novel dataset provides ...

Carrots are a good source of beta-carotene, which is a precursor of vitamin A. But to get the full health benefits of this superfood, you need an active enzyme to produce this vitamin. Late-onset ...