Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
Researchers found that patients who carry risk alleles at one of two SNPs located in cancer-linked genes are at higher risk for tumor-associated death.
Maintenance treatment with Clovis' rucaparib may be a more tolerable maintenance therapy than chemo in platinum-responsive patients with mutations in BRCA1/2 or PALB2.
The VISTA T cell-inhibiting protein found on macrophage immune cells may contribute to poor pancreatic ductal adenocarcinoma outcomes, new research finds.
Investigators published an initial report on the method, which they call cfMeDIP-Seq, last week, and are now hoping to move to analysis of samples from longitudinal health studies.
The approach allows scientists to look at single amino acid variants linked to diseases like cancer and could aid the investigation of tumor heterogeneity.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
