Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.
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.
Using exome sequence and phenotyping data for individuals from longitudinal population studies, investigators began parsing pathogenic mutation effects in the genes.
Genomiser correctly prioritized causal variants in as much as 68 percent of experimental cases, improving on numbers from comparable tools like Phen-Gen.
Three papers published this week offer fine-grained detail about the Exome Aggregation Consortium's analysis and methods, showing the data's value in a specific use case.
ScienceInsider reports that rude and unprofessional paper reviewers are common and can have harmful effects.
The US Senate has confirmed Stephen Hahn as the next commissioner of the Food and Drug Administration, according to the New York Times.
CNBC reports Apple is partnering with Color Genomics to offer its employees free DNA screening for disease.
In Science this week: researchers use CRISPR tool to find gut microbiome molecules involved in immunity, and more.