Researchers identified a mutational signature that's more common in urothelial tumors with non-silent somatic mutations in the nucleotide excision repair gene ERCC2.
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.
NPR reports that the patient who underwent a CRISPR-based treatment for sickle cell disease is doing well.
Resistance to ash dieback disease among some UK ash trees appears polygenic, the Independent reports.
In Nucleic Acids Research this week: sequencing strategy for flash-frozen brain tissue bank samples, new version of ChlamDB, and more.
A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.