monogenic disease

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 opinion piece in the Guardian argues that President Donald Trump is uninterested in science and that might not be a bad thing for the field.

The San Francisco Chronicle reports the Veterans Affairs Health System is studying whether genetic testing can help prescribe better depression therapies.

Stat News reports that Spark Therapeutics' Luxturna is now being used to treat a wider array of patients.

In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.