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mutation detection

Using sequences from hepatocellular carcinomas in Asia, researchers identified numerous cases with mutation signatures linked to aristolochic acid exposure.

Exome sequences for thousands of people revealed rare, inherited mutations and de novo mutations in a significant subset of congenital heart disease cases. 

With exome and/or RNA sequences for dozens of insulinomas, researchers saw epigenetic, development, and other pathways prompting insulin-producing cell expansion.

Many molecularly distinct subgroups emerged from a meta-analysis bringing together more than 1,000 high-grade glioma or diffuse intrinsic pontine glioma cases.

This Week in Nature

In Nature this week: paternal age associated with de novo mutations in children, and more.

An analysis of more than 1,500 Icelandic families suggests new mutations in children born to older Moms are distinct and tend to cluster in some parts of the genome.

The company shared validation data this week that it said led the FDA to approve use of the test in a new prospective trial of Roche's Tecentriq in NSCLC.

A new genome sequence study suggests sequence conservation is more common in HPV16 isolates from individuals with cancer or pre-cancerous conditions.

When investigators retraced recurrent mutations, expression changes, and methylation shifts in hundreds of Wilms tumor case, they identified two main pathways.

Clustered mutation signatures in more than 1,000 tumors led to a process that appears to contribute to the development of some cancer driver mutations.

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The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.

Astronauts have edited yeast genes on the International Space Station in an experiment designed to show how cells repair themselves in space.

Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.

In Science this week: influence of the nuclear genome on human mitochondrial DNA, and more.