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.
Mice in New York harbor both antibiotic-resistant bacteria and novel viruses, according to a new analysis of their fecal microbiomes.
Human Heredity and Health in Africa Initiative has issued guidelines for genomic research in the region, according to Nature News.
The Associated Press reports that an ethicist predicts that prenatal diagnosis and other advances will lead to more choices being available to prospective parents.
In Genome Biology this week: approach to analyze alternative polyadenylation, algorithm to predict transcriptomic structural variations, and more.