A Wellcome Trust Sanger Center-led team used a novel statistical approach to uncover four recessive developmental disorders.
An international team tracked down de novo mutations in the CHAMP1 gene in five children with intellectual and motor delays, speech impairment, and other symptoms.
Through exome and targeted sequencing, researchers identified de novo mutations in at least two genes involved in a condition called Möbius syndrome.
Researchers at the Manchester Centre for Genomic Medicine are using the platform to identify genetic alterations tied to cancer and developmental disorders and disabilities.
In a first proof-of-principle, Congenica and Central Manchester University Hospitals NHS Foundation Trust will create a reference laboratory for genomic screening.
The arrays feature the addition of newly identified genomic regions, as well as the removal of ones found to have no pathogenic significance.
Under the terms of the agreement, OGT will be able to use data from the developmental disorders studies to develop new arrays
Emory's Madhuri Hegde presented two cases that illustrate how researchers can initially be led astray in their initial interpretation of exome data.
The researchers analyzed variants in more than 1,100 children with severe undiagnosed developmental disorders and their parents using exome sequencing and array-CGH data.
Using arrays and exome sequencing, the study aims to diagnoses children with previously undiagnosed developmental disorders.
The Centers for Disease Control and Prevention estimates more people get sick and die from drug-resistant germs than previously thought, the Washington Post reports.
According to the Associated Press, three universities and a healthcare institution are sharing a gift of $1 billion.
New rules seek to limit the type of scientific and medical research that can be used to guide public health regulations, the New York Times reports.
In Nature this week: FreeHi-C approach simulates Hi-C data from interacting genome fragments, and more.