The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

Genet Med. 2014 Oct;16(10):736-7. doi: 10.1038/gim.2014.23. Epub 2014 Mar 20.

Authors

Matthew Might¹, Matt Wilsey²

Affiliations

¹ School of Computing, University of Utah, Salt Lake City, Utah, USA.
² PO Box 74, Menlo Park, California, USA.

PMID: 24651604
DOI: 10.1038/gim.2014.23

No abstract available

Publication types

Comment

MeSH terms

Abnormalities, Multiple / genetics*
Endoplasmic Reticulum-Associated Degradation / genetics*
Female
Humans
Male
Mutation*
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics*
Signal Transduction / genetics*

Substances

Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase