Ciara Curtin writes science features for GenomeWeb and is the editor of the Daily Scan and Careers blogs.
The researchers uncovered four genes that could identify additional individuals with actionable genetic disease risk when included in population screening.
Many labs have yet to make the switch from the GRCh37 reference genome to GRCh38, and new data and another new genome assembly suggests the decision may be complex.
The trial is examining new tools to identify patients with FH and help patients communicate disease risk to at-risk family members.
The developers say the Find Cell software tool allows researchers to improve their lab workflows and monitor cell lines for changes.
One of the ancient mammoths sequenced belongs to a previously unknown lineage that hybridized with woolly mammoths to give rise to Columbian mammoths.
A study presented at the NSGC annual meeting found that tumor analysis and germline testing yielded discordant results in almost a quarter of cases.
HudsonAlpha researchers analyzed what, if any, errors healthcare providers in the neonatal intensive care unit made when returning sequencing results.
The study, presented at the NSGC annual conference last week, supports the broader use of panel testing for cancer patients suspected of hereditary disease.
A National Society of Genetic Counselors panel discussed whether healthcare providers are ready for whole-genome sequencing to be adopted as a first-line test.
An MD Anderson-led team also used longitudinal single-cell sequencing to show how clonal architecture changed in response to AML treatment.