mutation detection

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.

New trial data presented at ASCO highlights the utility of checkpoint inhibitors, alone or with chemotherapy, across PD-L1 expression groups.

A phase 1 study from MD Anderson saw a modest increase in overall and progression-free survival in cancer patients molecularly matched to treatment.

Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.

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.