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monogenic disease

AMELIE demonstrated greater accuracy and speed than previous methods in suggesting relevant genetic variants for diagnosing monogenic disorders.

With genome sequences for nearly 900 individuals with primary immunodeficiency, researchers identified candidate genes and common variant contributors.

Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.

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.

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The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.