By genome and targeted sequencing on six children with Roifman syndrome, researchers identified compound heterozygous mutations in the RNU4ATAC small nuclear RNA gene.
The research will focus on the genetic factors behind the variable phenotypes observed in patients with developmental brain disorders such as schizophrenia and autism.
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 New York City Police Department will be removing DNA profiles from a local database if they are from people who were never convicted of a crime, the New York Times reports.
Science reports that accusations of sexual assault against a microbiome researcher has also led to questions about his academic certifications.
Wired reports that researchers are analyzing the DNA fish leave behind in water to study their populations.
In Science this week: comprehensive cellular map of the human thymus, evidence of admixture between the ancestors of Neanderthals and Denisovan and a 'superarchaic' population.