The need for genetic variant naming standards in published abstracts of human genetic association studies

BMC Research Notes

Volumn 2, Issue , 2009, Pages

  Yu, Wei ^a   Ned, Renée ^a   Wulf, Anja ^a   Liu, Tiebin ^a   Khoury, Muin J ^a   Gwinn, Marta ^a  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77049109708     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-2-56     Document Type: Article

References (19)

1. SNP genotyping: technologies and biomedical applications. S Kim A Misra, Annu Rev Biomed Eng 2007 9 289-320 289 320 10.1146/annurev.bioeng.9.060906. 152037 17391067
2. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? MJ Khoury M Gwinn PW Yoon N Dowling CA Moore L Bradley, Genet Med 2007 9 665 674 18073579
3. dbSNP: a database of single nucleotide polymorphisms. EM Smigielski K Sirotkin M Ward ST Sherry, Nucleic Acids Res 2000 28 352 355 10592272 10.1093/nar/28.1.352
4. HUGO Gene Nomenclature. http://www.gene.ucl.ac.uk/nomenclature
5. PubMed. http://www.ncbi.nlm.nih.gov/entrez
6. A navigator for human genome epidemiology. W Yu M Gwinn M Clyne A Yesupriya MJ Khoury, Nat Genet 2008 40 124 125 10.1038/ng0208-124 18227866
7. dbSNP. http://www.ncbi.nlm.nih.gov/projects/SNP/
8. Variant Name Mapper. http://www.hugenavigator.net/HuGENavigator/ startPageMapper.do
9. SNP500Cancer. http://snp500cancer.nci.nih.gov/home-1.cfm
10. SNPedia. http://www.snpedia.com/index.php/SNPedia
11. pharmGKB. http://www.pharmgkb.org/
12. ALFRED. http://alfred.med.yale.edu/alfred/
13. AlzGene. http://www.alzforum.org/res/com/gen/alzgene/default.asp
14. PDGene. http://www.pdgene.org/
15. SZgene. http://www.schizophreniaforum.org/res/sczgene/default.asp
16. LSDBs. http://www.hgvs.org/dblist/glsdb.html
17. The International HapMap Project. Nature 2003 426 789 796 10.1038/nature02168 14685227
18. The UCSC Genome Browser Database: update 2006. AS Hinrichs D Karolchik R Baertsch GP Barber G Bejerano H Clawson, et al. Nucleic Acids Res 2006 34 590 D598 16381938 10.1093/nar/gkj144
19. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. JT den Dunnen SE Antonarakis, Hum Mutat 2000 15 7 12 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N 10612815