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.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

Related Posts

This Week in PLOS

This Week in Nature

This Week in PNAS

This Week in PNAS

This Week in Science

In Genome Research this week: methylation patterns in multiple myeloma, recent Y chromosome bottleneck, and more.

By studying the spectra of microbes on Earth, a team of researchers hopes to be better equipped to detect any on other worlds.

SolveBio's Mark Kaganovich says at TechCrunch that genomics needs an app to push it into the mainstream.

A University of Michigan team is using a Facebook app to recruit and keep in touch with participants in its 'Genes for Good' project.