monogenic disease

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

An Australian-led team has generated a draft genome assembly of the invasive cane toad in hopes it will help in population control, the Sydney Morning Herald reports.

The New York Times reports that the US Department of Defense has implemented about half the recommendations made to improve safe handling of dangerous agents.

In PLOS this week: approach for teasing out archaic introgression in human genomes, immune transcription features in HCV infection, and more.

Stat News reports that Maryland is promoting itself to the biotech industry with a mobile billboard.