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monogenic disease

The panel also said that if any nation does decide to allow germline genome editing, its use should be limited to preventing serious monogenic diseases.

Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.

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.

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AstraZeneca has released its coronavirus vaccine trial protocol, according to the New York Times.

Time magazine looks into how liquid biopsies are changing cancer care.

According to the Guardian, more than 150 countries have signed on to a global SARS-CoV-2 vaccine plan.

In PNAS this week: similar muscle protein patterns across hypertrophic cardiomyopathy phenotypes, analysis of gene expression and brain anatomy in major depression, and more.