The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

More information: Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus, The American Journal of Human Genetics (2024). DOI: 10.1016/j.ajhg.2024.11.003 .

Variants in DDX53 and other X-linked genes offer genetic insights into the higher prevalence of ASD in males. A recent study ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.

Tim Sales, a Committee Member of the London Solicitors Litigation Association (LSLA) and a Partner at CMS, discusses the progress made in terms of thriving as a working parent and the challenges that ...

Background Improving the clinical interpretation of missense variants can increase the diagnostic yield of genomic testing and lead to personalised management strategies. Currently, due to the ...

Our vision is to innovate and incorporate promising technologies to communicate freely available, high-priority, high-quality content, which accelerates scientific progress and advances heart and ...

Journal reference: Scala, M., et al. (2024) Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus . American Journal of Human Genetics .

Objectives Genomic Risk Scores (GRS) successfully demonstrated the ability of genetics to identify those individuals at high risk for complex traits including immune-mediated inflammatory diseases ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...