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.
Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.
NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.
According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.
A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.
In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.