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Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.
With exomes for more than 500 individuals with neural tube defects, researchers are narrowing in on new variants that may raise the risk of the serious congenital conditions.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.
At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
At a time of rapid growth in the consumer genetics space, PerkinElmer and NorthShore are developing digital apps to ease access to genetic disease risk information through Helix.
President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.
A small, early-stage trial of a combination therapy for brain cancer reports favorable responses in two patients, according to the Guardian.
Nature News writes that viral genomic surveillance in the US faces systemic issues.
In PLOS this week: sex-stratified genome-wide association study of chronic pain, sequencing data from Indigenous Mexican groups, and more.