Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.
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Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
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In Nature this week: genomic analysis of high-grade serous ovarian cancer, and more.

The new Riken president outlines some of his plans for the institute.

The Guardian discusses whether big science projects are worth the loss of resources available for other scientific pursuits.

An NEJM update from the ClinVar team highlights the difficulties of interpreting genetic variants.