151 related articles for article (PubMed ID: 27367167)
1. Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.
den Dunnen JT
Curr Protoc Hum Genet; 2016 Jul; 90():7.13.1-7.13.19. PubMed ID: 27367167
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 26931183
[TBL] [Abstract][Full Text] [Related]
3. Describing Sequence Variants Using HGVS Nomenclature.
den Dunnen JT
Methods Mol Biol; 2017; 1492():243-251. PubMed ID: 27822869
[TBL] [Abstract][Full Text] [Related]
4. Describing structural changes by extending HGVS sequence variation nomenclature.
Taschner PE; den Dunnen JT
Hum Mutat; 2011 May; 32(5):507-11. PubMed ID: 21309030
[TBL] [Abstract][Full Text] [Related]
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(Suppl 4):S5. PubMed ID: 21992071
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18000842
[TBL] [Abstract][Full Text] [Related]
7. Mutalyzer 2: next generation HGVS nomenclature checker.
Lefter M; Vis JK; Vermaat M; den Dunnen JT; Taschner PEM; Laros JFJ
Bioinformatics; 2021 Sep; 37(18):2811-2817. PubMed ID: 33538839
[TBL] [Abstract][Full Text] [Related]
8. 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; 31(2):268-70. PubMed ID: 25273102
[TBL] [Abstract][Full Text] [Related]
9. A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL; Garcia S; Montana A; Harris J; Chervitz S; Morra M; West J; Chen R; Church DM
Genome Med; 2017 Jan; 9(1):7. PubMed ID: 28122645
[TBL] [Abstract][Full Text] [Related]
10. An efficient algorithm for the extraction of HGVS variant descriptions from sequences.
Vis JK; Vermaat M; Taschner PE; Kok JN; Laros JF
Bioinformatics; 2015 Dec; 31(23):3751-7. PubMed ID: 26231427
[TBL] [Abstract][Full Text] [Related]
11. Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing-Based Assays for Cancer.
Callenberg KM; Santana-Santos L; Chen L; Ernst WL; De Moura MB; Nikiforov YE; Nikiforova MN; Roy S
J Mol Diagn; 2018 Sep; 20(5):628-634. PubMed ID: 29936258
[TBL] [Abstract][Full Text] [Related]
12. hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.
Wang M; Callenberg KM; Dalgleish R; Fedtsov A; Fox NK; Freeman PJ; Jacobs KB; Kaleta P; McMurry AJ; Prlić A; Rajaraman V; Hart RK
Hum Mutat; 2018 Dec; 39(12):1803-1813. PubMed ID: 30129167
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 28967166
[TBL] [Abstract][Full Text] [Related]
14. VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma GC; Vihinen M
Hum Mutat; 2016 Apr; 37(4):344-9. PubMed ID: 26773573
[TBL] [Abstract][Full Text] [Related]
15. A common classification framework for histone sequence alterations in tumours: an expert consensus proposal.
Leske H; Dalgleish R; Lazar AJ; Reifenberger G; Cree IA
J Pathol; 2021 Jun; 254(2):109-120. PubMed ID: 33779999
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 21796730
[TBL] [Abstract][Full Text] [Related]
17. HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.
Deans ZC; Fairley JA; den Dunnen JT; Clark C
Hum Mutat; 2016 Jun; 37(6):576-8. PubMed ID: 26919400
[TBL] [Abstract][Full Text] [Related]
18. Variations in Nomenclature of Clinical Variants between Annotation Tools.
Park KJ; Park JH
Lab Med; 2022 May; 53(3):242-245. PubMed ID: 34612497
[TBL] [Abstract][Full Text] [Related]
19. Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencing.
Tikkanen T; Leroy B; Fournier JL; Risques RA; Malcikova J; Soussi T
Hum Mutat; 2018 Jul; 39(7):925-933. PubMed ID: 29696732
[TBL] [Abstract][Full Text] [Related]
20. Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.
Watkins M; Rynearson S; Henrie A; Eilbeck K
AMIA Annu Symp Proc; 2019; 2019():1226-1235. PubMed ID: 32308920
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
