Monica Heger tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb.
Using a protocol developed at the University of Oxford, the researchers hope that nanopore sequencing can aid diagnosis and drug resistance profiling in remote areas.
The study demonstrates that Veracyte's new test improves upon an earlier version in its ability to identify thyroid nodules that are likely to be benign.
The project seeks to understand how genome sequencing as a first-line diagnostic in infants with likely hereditary disorders can impact long-term health outcomes.
The NGS-based test improves on a previous PCR-based version and detects circulating DNA from Epstein Barr virus that is shed from cancer cells.
The firm said it would likely do a joint submission of its ctDNA assay to the FDA and CMS for approval and a national coverage determination.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.
The company offers a range of exome-based tests that include both diagnostic tests for rare disease as well as disease-risk screening for asymptomatic adults.
Researchers validated 95 percent of structural variants called by PacBio sequencing versus 43 percent with Oxford Nanopore, while Illumina missed thousands.
Tumor sequencing tests may pick up age-associated mutations called clonal hematopoiesis, a noncancerous phenomenon that can have clinical implications.
The company said that recent regulatory and reimbursement decisions have been favorable and will help spur adoption of clinical NGS testing.
Researchers have sequenced the northern white rhinoceros to gauge whether it could be brought back from the edge of extinction, the New York Times reports.
Bavaria expands its forensic genetic analyses to include DNA phenotyping, raising discrimination concerns.
Tufts University researchers found a role for miRNA in transmitting stress between generations, the Economist reports.
In Science this week: gut microbiome influences liver cancer growth, spread; and more.