277 related articles for article (PubMed ID: 30591019)
1. Systematics for types and effects of DNA variations.
Vihinen M
BMC Genomics; 2018 Dec; 19(1):974. PubMed ID: 30591019
[TBL] [Abstract][Full Text] [Related]
2. Systematics for types and effects of RNA variations.
Vihinen M
RNA Biol; 2021 Apr; 18(4):481-498. PubMed ID: 32951567
[TBL] [Abstract][Full Text] [Related]
3. Variation Ontology for annotation of variation effects and mechanisms.
Vihinen M
Genome Res; 2014 Feb; 24(2):356-64. PubMed ID: 24162187
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Variation ontology: annotator guide.
Vihinen M
J Biomed Semantics; 2014 Feb; 5(1):9. PubMed ID: 24533660
[TBL] [Abstract][Full Text] [Related]
6. Types and effects of protein variations.
Vihinen M
Hum Genet; 2015 Apr; 134(4):405-21. PubMed ID: 25616435
[TBL] [Abstract][Full Text] [Related]
7. Evolutionary characters, phenotypes and ontologies: curating data from the systematic biology literature.
Dahdul WM; Balhoff JP; Engeman J; Grande T; Hilton EJ; Kothari C; Lapp H; Lundberg JG; Midford PE; Vision TJ; Westerfield M; Mabee PM
PLoS One; 2010 May; 5(5):e10708. PubMed ID: 20505755
[TBL] [Abstract][Full Text] [Related]
8. The European Variation Archive: a FAIR resource of genomic variation for all species.
Cezard T; Cunningham F; Hunt SE; Koylass B; Kumar N; Saunders G; Shen A; Silva AF; Tsukanov K; Venkataraman S; Flicek P; Parkinson H; Keane TM
Nucleic Acids Res; 2022 Jan; 50(D1):D1216-D1220. PubMed ID: 34718739
[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. FROG - Fingerprinting Genomic Variation Ontology.
Abinaya E; Narang P; Bhardwaj A
PLoS One; 2015; 10(8):e0134693. PubMed ID: 26244889
[TBL] [Abstract][Full Text] [Related]
11. A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.
Diroma MA; Lubisco P; Attimonelli M
BMC Bioinformatics; 2016 Nov; 17(Suppl 12):338. PubMed ID: 28185569
[TBL] [Abstract][Full Text] [Related]
12. Establishment of an international database for genetic variants in esophageal cancer.
Vihinen M
Ann N Y Acad Sci; 2016 Oct; 1381(1):45-49. PubMed ID: 27442983
[TBL] [Abstract][Full Text] [Related]
13. VARAdb: a comprehensive variation annotation database for human.
Pan Q; Liu YJ; Bai XF; Han XL; Jiang Y; Ai B; Shi SS; Wang F; Xu MC; Wang YZ; Zhao J; Chen JX; Zhang J; Li XC; Zhu J; Zhang GR; Wang QY; Li CQ
Nucleic Acids Res; 2021 Jan; 49(D1):D1431-D1444. PubMed ID: 33095866
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Falk MJ; Shen L; Gonzalez M; Leipzig J; Lott MT; Stassen AP; Diroma MA; Navarro-Gomez D; Yeske P; Bai R; Boles RG; Brilhante V; Ralph D; DaRe JT; Shelton R; Terry SF; Zhang Z; Copeland WC; van Oven M; Prokisch H; Wallace DC; Attimonelli M; Krotoski D; Zuchner S; Gai X; ; ; ; ; ;
Mol Genet Metab; 2015 Mar; 114(3):388-96. PubMed ID: 25542617
[TBL] [Abstract][Full Text] [Related]
15. MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.
Rappaport N; Twik M; Plaschkes I; Nudel R; Iny Stein T; Levitt J; Gershoni M; Morrey CP; Safran M; Lancet D
Nucleic Acids Res; 2017 Jan; 45(D1):D877-D887. PubMed ID: 27899610
[TBL] [Abstract][Full Text] [Related]
16. SnpHub: an easy-to-set-up web server framework for exploring large-scale genomic variation data in the post-genomic era with applications in wheat.
Wang W; Wang Z; Li X; Ni Z; Hu Z; Xin M; Peng H; Yao Y; Sun Q; Guo W
Gigascience; 2020 Jun; 9(6):. PubMed ID: 32501478
[TBL] [Abstract][Full Text] [Related]
17. A practical guide for the functional annotation of genetic variations using SNPnexus.
Dayem Ullah AZ; Lemoine NR; Chelala C
Brief Bioinform; 2013 Jul; 14(4):437-47. PubMed ID: 23395730
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.
Vazquez M; Pons T; Brunak S; Valencia A; Izarzugaza JM
Hum Mutat; 2016 Jan; 37(1):36-42. PubMed ID: 26443060
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
