Mendelian disorder

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. 

The team is making several improvements to its MyGene2 platform portal in an attempt to encourage open sharing of genomic data.

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The US National Institutes of Health and the Food and Drug Administration have proposed changing gene therapy oversight, the Associated Press reports.

Nature News reports that the Salk Institute has asked for the scope of a gender discrimination lawsuit brought against it to be narrowed.

CNBC reports that the sequencing startup Veritas aims to sequence individuals who fall at extremes.

In PLOS this week: genotyping of indigenous North African goats, program to simulate evolve and resequencing studies, and more.