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 PLOS

This Week in PNAS

This Week in PNAS

In PNAS this week: co-evolutionary signatures of insect hosts and bacterial symbionts, distinct transcript isoforms of high-grade ovarian cancer, and more.

Adam Rutherford discusses genetic genealogy at the Guardian.

Portions of the US 21st Century Cures Act are raising some safety concerns.

David Dobbs writes at Buzzfeed that genomics has delivered little on its promises.