mutation detection

Researchers found relevant non-coding mutations in colorectal cancer cell lines by systematically profiling chromosome interactions at promoter fragments.

Researchers found that the diverse features in mixed phenotype acute leukemia may stem from early blood progenitor mutations.

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.

Pages

Researchers hope to tease out the signature effects that different carcinogens leave on the genome to determine their contributions to disease, Mosaic reports.

The Wall Street Journal looks into the cost of new gene therapies.

An Imperial College London-led team reports that it was able to use a gene drive to control a population of lab mosquitos.

In PNAS this week: genomic effects of silver fox domestication, limited effect of mitochondrial mutations on aging in fruit flies, and more.