Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.
Park J, Hyun YS, Kim YJ, Nam SH, et al.
J Clin Neurol. 2013 Oct;9(4):283-288.


Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
Adly N, Alhashem A, Ammari A, Alkuraya FS.
Hum Mutat. 2013 Nov 6. [Epub ahead of print]

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In Science this week: factors influencing retrotransposon integration sites, and more.

A bioethicist argues for the responsible use of germline gene editing.

Some breweries are using DNA-based testing to determine whether unwanted bacteria are affecting their beers, The Verge reports.

Standardized N-of-1 trials will be needed to test out personalized medicines, writes Nicholas Schork from the J. Craig Venter Institute at Nature.