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Mendelian disorder

The National Human Genome Research Institute and the National Cancer Institute also intend to fund the dissemination of genomic resources to the research community.

The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.

A new study in Science used allele-specific expression data to find candidate genes that may have contributed to mendelian muscle disease in patients.

In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review.

The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.

Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.

The company has begun piloting the software, which is targeted towards bioinformatics companies and clinical laboratories, with early adopters ahead of the planned launch.

Researchers compared findings from genome-wide association studies for 62 traits or conditions with genes implicated in 20 Mendelian disorder types, uncovering new ties.

A new analysis says sequencing early in in the diagnostic process for infants with suspected Mendelian disorders is cost-effective.

In PLOS this week: resource to track Mendelian disease-related variants in dogs, microRNAs linked to atrial fibrillation in surgical patients, and more.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.