A pair of Massachusetts General Hospital researchers has developed an approach to sift through blood samples for tumor cells, Stat News reports.
Two Boston-based researchers shared methods for detecting circulating nucleic acid biomarkers for potential use in cancer diagnosis and monitoring.
Starting from sequence and SNP data for hundreds of thousands of unselected individuals, researchers estimated penetrance for variants in the prion protein gene.
Repeat molecular analysis of a patient's cancer helped clinicians guide targeted therapies as drug resistance emerged and ebbed.
Sequence-level analysis of European Huntington's disease haplotype indicates its long history and suggests potential targets for allele-specific gene-targeting therapies.
Researchers considered the management impact of multigene panel results for more than 1,000 BRCA1/2 mutation-free women referred for hereditary breast and ovarian cancer testing.
Targeted and exome sequencing uncovered loss-of-function mutations in DCHS1 in several families affected by non-syndromic mitral valve prolapse.
A study involving more than 4,000 Huntington's disease cases led to variants on chromosomes 15 and 8 with ties to the age at which symptoms appear.
Independent research teams used exome or genome sequencing to compare mutation patterns in matched Barrett's esophagus, esophageal cancer, and normal samples.
Broad's CRSP pipeline repurposes and validates familiar tools and best practices from its research arm and also incorporates some new ones.
A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.
The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.
Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.
In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.