monogenic disease

A new study suggests that common variants influence neurodevelopmental disorder risk and the way the conditions manifestation themselves.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

Researchers retrospectively analyzed data for 278 critically ill infants tested by clinical exome sequencing at a Texas hospital over five years.

A pair of new studies evaluated whole-exome sequencing and other genetic tests in children with epilepsy and in other undiagnosed monogenic disease cases.

With new gene sequencing panels, investigators made firm or possible diagnoses in almost one-third of undiagnosed autoinflammation and vasculitis cases.

After identifying mutations in CARD11 in individuals with severe atopic dermatitis, investigators began untangling potential signaling consequences.

A study by researchers in Italy found that preimplantation genetic diagnosis and screening combined led to more successful pregnancies per transfer but fewer women had embryos transferred.

Using monogenic diabetes registry examples, a University of Chicago researcher argued that appropriate genetic testing is needed to detect monogenic diabetes.

Ahead of opening a new clinical pediatric sequencing center next year, Genome Québec and The Sainte-Justine Mother and Child University Hospital Centre are evaluating technology to provide clinical exome sequencing to children with suspected genetic diseases throughout Quebec.

A group of researchers at Children's Mercy Hospital, led by Stephen Kingsmore, is using the "rapid mode" capabilities of Illumina's HiSeq2500 combined with novel software tools to sequence the genomes of infants entering Children's Mercy Hospital's neonatal intensive care unit, i

A genomic analysis of modern and ancient maize reveals a complicated domestication history, according to Reuters.

In PLOS this week: MYRF variant linked to congenital diaphragmatic hernia, analysis of the "dragon's blood" red resin produced by traditional medicine plants, and more.

CNBC reports that half of academic researchers leave after about five years.

Researchers have used genetic analysis to confirm a new type of salamander, the New York Times reports.