Mendelian disorder

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.

MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.

RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software. 

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Microsoft co-founder Paul Allen also contributed to brain research, NPR reports.

The New York Times reports on the shifting interpretations of what some genetic variants mean over time.

In Cell this week: investigation of metastatic tumor evolution, more than 16,000 genetic variants introduced into the budding yeast model organism, and more.

MIT's Technology Review reports on Genentech's pursuit of personalized cancer vaccines.