Close Menu

Mendelian disorder

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.

This Week in PLOS

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.

This Week in Science

In Science this week: analysis of DNA from ancient North Africans, and more.

The researchers developed phenotype risk scores that they could apply to electronic health record data to uncover undiagnosed genetic disease.

Pages

The New York Times Magazine examines gender discrimination at the Salk Institute.

Science reports that MD Anderson Cancer Center has dismissed three researchers over foreign tie concerns.

A second death in gene therapy trial for type 1 spinal muscular atrophy is under investigation, according to Reuters.

In PLOS this week: antibiotic resistance patterns in Escherichia coli, a dozen genetic loci tied to varicose vein risk, and more.