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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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Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.

Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.

A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.

In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.