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 study, focused on two genes associated with cardiac disorders, found that patient phenotypes did not correlate with the presence or absence of a pathogenic variant.
Wolf and colleagues recently published a series of articles that included recommendations on how and when to share genomic data with research subjects' relatives.
The Associated Press reports that the US government wasted $341,000 on travel by former Health and Human Services Secretary Tom Price.
Women who post YouTube science videos get more critical comments and more comments about their appearance than male video hosts, the New York Times reports.
The Wall Street Journal writes that participating in genetic research brings up the specter of past research ethics lapses for some African Americans.
In PLOS this week: sequences influencing yeast prion aggregation or degradation, dengue virus genetic variants affect transmission dynamics, and more.