Scientists from a collaboration of Australian research institutions have proposed that editing multiple genetic variants in ...

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

Late-onset Alzheimer's disease is a debilitating, progressive neurodegenerative disease that affects about 7 million ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

4 Hypophosphatemia occurs when there are genetic ... 2 Management and support for X chromosome disorders There are various management strategies available for X chromosome disorders, including ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Female mammals typically carry two X chromosomes — one from each parent — and a new study suggests that the maternal X is ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

EU-backed researchers and doctors are pioneering advanced pre-implantation and prenatal genetic testing to improve the chance ...

Changing the future of treatments for genetic diseases? The study’s findings point to an entirely new paradigm for ... Using a clonal primary T cell system to assess aRMAE status of genes in healthy ...