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Items: 1 to 20 of 74

1.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehväslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR.

Genome Med. 2010 Apr 15;2(4):24. doi: 10.1186/gm145.

2.

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.

MacArthur JA, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P, Flicek P, Dalgleish R, Maglott DR, Cunningham F.

Nucleic Acids Res. 2014 Jan;42(Database issue):D873-8. doi: 10.1093/nar/gkt1198. Epub 2013 Nov 26.

4.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE.

Hum Mutat. 2008 Jan;29(1):6-13.

PMID:
18000842
5.

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.

6.

Describing Sequence Variants Using HGVS Nomenclature.

den Dunnen JT.

Methods Mol Biol. 2017;1492:243-251.

PMID:
27822869
7.

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
8.

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R.

Hum Mutat. 2018 Jan;39(1):61-68. doi: 10.1002/humu.23348. Epub 2017 Oct 17.

9.

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
10.

Variobox: automatic detection and annotation of human genetic variants.

Gaspar P, Lopes P, Oliveira J, Santos R, Dalgleish R, Oliveira JL.

Hum Mutat. 2014 Feb;35(2):202-7. doi: 10.1002/humu.22474. Epub 2013 Nov 21.

PMID:
24186831
11.

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.

Hart RK, Rico R, Hare E, Garcia J, Westbrook J, Fusaro VA.

Bioinformatics. 2015 Jan 15;31(2):268-70. doi: 10.1093/bioinformatics/btu630. Epub 2014 Sep 30.

12.

GeneReporter--sequence-based document retrieval and annotation.

Bartsch A, Bunk B, Haddad I, Klein J, Münch R, Johl T, Kärst U, Jänsch L, Jahn D, Retter I.

Bioinformatics. 2011 Apr 1;27(7):1034-5. doi: 10.1093/bioinformatics/btr047. Epub 2011 Feb 9.

13.

Analysis of human mRNAs with the reference genome sequence reveals potential errors, polymorphisms, and RNA editing.

Furey TS, Diekhans M, Lu Y, Graves TA, Oddy L, Randall-Maher J, Hillier LW, Wilson RK, Haussler D.

Genome Res. 2004 Oct;14(10B):2034-40.

15.

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
16.

ClinVar: public archive of interpretations of clinically relevant variants.

Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin-Salomon R, Rubinstein W, Maglott DR.

Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8. doi: 10.1093/nar/gkv1222. Epub 2015 Nov 17.

17.

Impacts of variation in the human genome on gene regulation.

Haraksingh RR, Snyder MP.

J Mol Biol. 2013 Nov 1;425(21):3970-7. doi: 10.1016/j.jmb.2013.07.015. Epub 2013 Jul 16. Review.

18.

A collection of plant-specific genomic data and resources at NCBI.

Tatusova T, Smith-White B, Ostell J.

Methods Mol Biol. 2007;406:61-87.

PMID:
18287688
19.

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

Tack V, Deans ZC, Wolstenholme N, Patton S, Dequeker EM.

Hum Mutat. 2016 Jun;37(6):570-5. doi: 10.1002/humu.22975. Epub 2016 Mar 14.

PMID:
26920083
20.

Automated splicing mutation analysis by information theory.

Nalla VK, Rogan PK.

Hum Mutat. 2005 Apr;25(4):334-42. Erratum in: Hum Mutat. 2008 Sep;29(9): 1168.

PMID:
15776446

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