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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Parabon NanoLabs is partnering with law enforcement to use genetic genealogy approaches to solve cold cases, Buzzfeed News reports.

A Columbia University-led team used emergency contact information from medical records to create family trees and estimate disease heritability.

In Science this week: ancient Southeast Asian genomes provide insight on human migration, and more.

NPR says a new report recommends that former research chimpanzees should be moved to retirement sanctuaries unless that move would shorten their lives.