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Mendelian disorder

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.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.

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A South African university has told the Wellcome Sanger Institute to return DNA samples it has from indigenous African communities, The Times reports.

The University of California, Berkeley's Rasmus Nielsen and Xinzhu Wei have retracted their CCR5 gene paper due to a technical artifact.

 

University of Virginia researchers are exploring a genetic risk test to gauge type 1 diabetes risk, NPR reports.

In PNAS this week: researchers compare two high-grade neuroendocrine lung cancers, height among ancient Europeans, and more.