Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
With sequence data for more than 118,000 tumors profiled at Foundation Medicine, investigators tracked PDL1 amplification prevalence and possible treatment implications.
New tumor profiling papers stemming from prior clinical trials led to informative mutations in early-stage, ER+/HER2- breast cancer and lung squamous cell carcinoma.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
Exome sequencing on tumors from metastatic, castration-resistant prostate cancer cases responding to immunotherapy led to homologous recombination defects.
A targeted sequencing analysis of 42 pancreatic ductal adenocarcinoma has uncovered prognostically-relevant germline mutations in 29 percent of sporadic cases.
An analysis revealed an uptick in cancer in frontotemporal lobar degeneration-affected families with tau mutations, pointing to a broader tau protein role.
President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.