Knowledge graphs are a powerful tool for bringing together information from biological databases and linking what is already ...

3M syndrome is a rare autosomal recessive primordial growth disorder that manifests as severe pre‐ and post‐natal growth retardation, typical facial dysmorphism and skeletal anomalies. Mutations in ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how ...

Our understanding of mental illness is undergoing a major evolution, driven by recent advances in genetics. Rather than focusing solely on symptoms observed in consultation, research is ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

New AI-enabled research tool, Cardiovascular Knowledge Graph (CardioKG), connects heart scans with genetics, boosting drug ...