This Week in PNAS | GenomeWeb

This Week in PNAS

In the early edition of the Proceedings of the National Academy of Sciences, a team from the US, Taiwan, and Canada outline its sequencing-based efforts to identify rare variants involved in Noonan syndrome, a developmental condition that can stem from mutations affecting members of the RAS-ERK signaling pathway. Using germline DNA from 25 individuals with Noonan syndrome who did not carry alterations in known risk genes, the researchers performed whole-exome sequencing.

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In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.