Emma Broadbent had just turned one when her parents were told that, despite months of tests, physicians still had no explanation for her condition. Emma’s brain was not developing myelin, the fatty ...

Scientists testing a new method of sequencing single cells have unexpectedly changed our understanding of the rules of genetics. The genome of a protist has revealed a seemingly unique divergence in ...

Researchers at Baylor College of Medicine’s Dan L Duncan Comprehensive Cancer Center and Human Genome Sequencing Center investigated the extent to which forms of genetic variation called germline or ...

A comparison of GWAS data by an international team of scientists highlights significant differences in genetic risk loci for metabolic diseases between Arab and European populations. Thangavel ...

Genes in the millions of cells throughout the human body aid in the construction, repair, and maintenance of all bodily functions. However, mutations in these genes can disrupt this balance, leading ...

Researchers have shed light on the specific variations responsible for an uncommon and deadly condition known as 'RAD50 deficiency/Nijmegen breakage syndrome-like disorder' in a study published ...

In a comprehensive Genomic Press Invited Expert Review, researchers from the University of Haifa have synthesized cutting-edge findings on Prader-Willi syndrome (PWS), revealing how this complex ...

Since the first sequencing of the human genome more than 20 years ago, the study of human genomes has relied almost exclusively on a single reference genome to which others are compared to identify ...

Several genetic variations were recovered in individuals during remission compared to those in active disease. Recovered features included reduction of plasma and cell cycle signatures and increase of ...