Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2017 May;19(5):491-492.
doi: 10.1038/gim.2016.139. Epub 2016 Sep 22.

Mastering genomic terminology

Affiliations
Editorial

Mastering genomic terminology

Gail P Jarvik et al. Genet Med. 2017 May.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest

References

    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. - PMC - PubMed
    1. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nature reviews. Molecular cell biology. 2004;5(2):89–99. - PubMed
    1. Conti E, Izaurralde E. Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species. Current opinion in cell biology. 2005;17(3):316–325. - PubMed
    1. Isidor B, Lindenbaum P, Pichon O, et al. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011;43(4):306–308. - PubMed

Publication types

LinkOut - more resources