Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
With this model, the Geisinger team disclosed secondary genomic findings to 95 percent of the MyCode Community Health Initiative participants with such results.
HudsonAlpha researchers analyzed the genomes of parents whose children were in a study of developmental delay and intellectual disability for secondary findings.
Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.
In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.
The company, a division of cardiology clinic Spera Medical, is offering WGS with annual clinical reports as part of a long-term research study.
An ACMG workgroup has added four new genes, removed one gene, and said it would open up the nomination process to the broader community and consider PGx genes.
The University of Washington researchers intend to license the tool, called My46, to other academic and nonprofit research organizations free of charge.
The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.
Researchers found that reporting an incidental genetic finding doesn't cause patients extra anxiety and may lead to positive changes if the disease is actionable.
The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.
The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.
Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.
In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.