Mendelian disorder

A new analysis says sequencing early in in the diagnostic process for infants with suspected Mendelian disorders is cost-effective.

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

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.