mutation detection

Researchers looked at the prevalence and effects of whole-genome duplication events across cancers using targeted sequenced data for almost 10,000 advanced cases.

Array-based copy number analysis of primary intrahepatic cholangiocarcinomas and matched lymph node metastases revealed a tumor cluster with ties to survival.

New genetic studies are providing insights into the molecular changes that occur as benign moles transition to melanoma and spread to other parts of the body by metastasis.

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.

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Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.

In Science this week: research regulation and reporting requirement reform, and more.

With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.