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Items: 1 to 20 of 95

1.

Vive la différence: naming structural variants in the human reference genome.

Seal RL, Wright MW, Gray KA, Bruford EA.

Hum Genomics. 2013 May 1;7:12. doi: 10.1186/1479-7364-7-12.

2.

Genenames.org: the HGNC and VGNC resources in 2017.

Yates B, Braschi B, Gray KA, Seal RL, Tweedie S, Bruford EA.

Nucleic Acids Res. 2017 Jan 4;45(D1):D619-D625. doi: 10.1093/nar/gkw1033. Epub 2016 Oct 30.

3.

Genenames.org: the HGNC resources in 2013.

Gray KA, Daugherty LC, Gordon SM, Seal RL, Wright MW, Bruford EA.

Nucleic Acids Res. 2013 Jan;41(Database issue):D545-52. doi: 10.1093/nar/gks1066. Epub 2012 Nov 17.

4.

genenames.org: the HGNC resources in 2011.

Seal RL, Gordon SM, Lush MJ, Wright MW, Bruford EA.

Nucleic Acids Res. 2011 Jan;39(Database issue):D514-9. doi: 10.1093/nar/gkq892. Epub 2010 Oct 6.

5.

Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature.

Wright MW, Bruford EA.

Hum Genomics. 2011 Jan;5(2):90-8. Review.

6.

Genenames.org: the HGNC resources in 2015.

Gray KA, Yates B, Seal RL, Wright MW, Bruford EA.

Nucleic Acids Res. 2015 Jan;43(Database issue):D1079-85. doi: 10.1093/nar/gku1071. Epub 2014 Oct 31.

7.

The HGNC Database in 2008: a resource for the human genome.

Bruford EA, Lush MJ, Wright MW, Sneddon TP, Povey S, Birney E.

Nucleic Acids Res. 2008 Jan;36(Database issue):D445-8. Epub 2007 Nov 4.

8.

Gene family matters: expanding the HGNC resource.

Daugherty LC, Seal RL, Wright MW, Bruford EA.

Hum Genomics. 2012 Jul 5;6:4. doi: 10.1186/1479-7364-6-4. Review.

9.

A short guide to long non-coding RNA gene nomenclature.

Wright MW.

Hum Genomics. 2014 Apr 9;8:7. doi: 10.1186/1479-7364-8-7.

10.

Proposed nomenclature for microhaplotypes.

Kidd KK.

Hum Genomics. 2016 Jun 17;10(1):16. doi: 10.1186/s40246-016-0078-y.

11.

Genew: the human gene nomenclature database.

Wain HM, Lush M, Ducluzeau F, Povey S.

Nucleic Acids Res. 2002 Jan 1;30(1):169-71.

12.

Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.

den Dunnen JT.

Curr Protoc Hum Genet. 2016 Jul 1;90:7.13.1-7.13.19. doi: 10.1002/cphg.2.

PMID:
27367167
13.

Describing structural changes by extending HGVS sequence variation nomenclature.

Taschner PE, den Dunnen JT.

Hum Mutat. 2011 May;32(5):507-11. doi: 10.1002/humu.21427. Epub 2011 Mar 15.

PMID:
21309030
14.

RGST - Rat Gene Symbol Tracker, a database for defining official rat gene symbols.

Petersen G, Ståhl F.

BMC Genomics. 2008 Jan 23;9:29. doi: 10.1186/1471-2164-9-29.

15.

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

Laros JF, Blavier A, den Dunnen JT, Taschner PE.

BMC Bioinformatics. 2011;12 Suppl 4:S5. doi: 10.1186/1471-2105-12-S4-S5. Epub 2011 Jul 5.

16.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE.

Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.

PMID:
26931183
17.

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Berwouts S, Morris MA, Girodon E, Schwarz M, Stuhrmann M, Dequeker E.

Hum Mutat. 2011 Nov;32(11):1197-203. doi: 10.1002/humu.21569. Epub 2011 Aug 17.

PMID:
21796730
18.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

19.

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.

White JA, McAlpine PJ, Antonarakis S, Cann H, Eppig JT, Frazer K, Frezal J, Lancet D, Nahmias J, Pearson P, Peters J, Scott A, Scott H, Spurr N, Talbot C Jr, Povey S.

Genomics. 1997 Oct 15;45(2):468-71. No abstract available.

PMID:
9344684
20.

Using standard nomenclature to adequately name transgenes, knockout gene alleles and any mutation associated to a genetically modified mouse strain.

Montoliu L, Whitelaw CB.

Transgenic Res. 2011 Apr;20(2):435-40. doi: 10.1007/s11248-010-9428-z. Epub 2010 Jul 15.

PMID:
20632206

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