Standard development at the Human Variome Project-Reference-Cited by-同舟云学术

Standard development at the Human Variome Project

Published:2015-01-01 Issue: Volume:2015 Page:
ISSN:1758-0463
Container-title:Database
language:en
Short-container-title:

Author:

Smith Timothy D.¹,Vihinen Mauno¹

Affiliation:

1. Human Variome Project, Level 5, 234 Queensberry Street, The University of Melbourne, Victoria, 3010, Australia and 2 Department of Experimental Medical Science, BMC D10, Lund University, SE-22184 Lund, Sweden

Publisher

Oxford University Press (OUP)

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Information Systems

Link

http://academic.oup.com/database/article-pdf/doi/10.1093/database/bav024/7298633/bav024.pdf

Reference6 articles.

1. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker;Wildeman;Hum Mutat.,2008

2. Locus reference genomic sequences: an improved basis for describing human DNA variants.;Dalgleish;Genome Med.,2010

3. LOVD v.2.0: the next generation in gene variant databases;Fokkema;Hum. Mutat.,2011

4. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;den Dunnen;Hum. Mutat.,2000

5. VarioML framework for comprehensive variation data representation and exchange;Byrne;BMC Bioinformatics,2012

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