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mutation detection

With targeted gene sequencing data from a large set of archived tumor samples, researchers identified somatic mutations coinciding with better or worse overall survival.

The transcriptomes of recessive dystrophic epidermolysis bullosa squamous cell carcinoma also suggested a role for inflammation in disease development.

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.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.