262 related articles for article (PubMed ID: 29539190)
1. MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Shen L; Attimonelli M; Bai R; Lott MT; Wallace DC; Falk MJ; Gai X
Hum Mutat; 2018 Jun; 39(6):806-810. PubMed ID: 29539190
[TBL] [Abstract][Full Text] [Related]
2. MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.
Shen L; Falk MJ; Gai X
Curr Protoc; 2024 Jan; 4(1):e955. PubMed ID: 38284225
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Shen L; Diroma MA; Gonzalez M; Navarro-Gomez D; Leipzig J; Lott MT; van Oven M; Wallace DC; Muraresku CC; Zolkipli-Cunningham Z; Chinnery PF; Attimonelli M; Zuchner S; Falk MJ; Gai X
Hum Mutat; 2016 Jun; 37(6):540-548. PubMed ID: 26919060
[TBL] [Abstract][Full Text] [Related]
5. HmtVar: a new resource for human mitochondrial variations and pathogenicity data.
Preste R; Vitale O; Clima R; Gasparre G; Attimonelli M
Nucleic Acids Res; 2019 Jan; 47(D1):D1202-D1210. PubMed ID: 30371888
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort.
Rueda M; Torkamani A
BMC Bioinformatics; 2017 Aug; 18(1):373. PubMed ID: 28821228
[TBL] [Abstract][Full Text] [Related]
8. Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Shen L; McCormick EM; Muraresku CC; Falk MJ; Gai X
Clin Lab Med; 2020 Jun; 40(2):149-161. PubMed ID: 32439066
[TBL] [Abstract][Full Text] [Related]
9. HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research.
Attimonelli M; Accetturo M; Santamaria M; Lascaro D; Scioscia G; Pappadà G; Russo L; Zanchetta L; Tommaseo-Ponzetta M
BMC Bioinformatics; 2005 Dec; 6 Suppl 4(Suppl 4):S4. PubMed ID: 16351753
[TBL] [Abstract][Full Text] [Related]
10. HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
Clima R; Preste R; Calabrese C; Diroma MA; Santorsola M; Scioscia G; Simone D; Shen L; Gasparre G; Attimonelli M
Nucleic Acids Res; 2017 Jan; 45(D1):D698-D706. PubMed ID: 27899581
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. HmtDB, a genomic resource for mitochondrion-based human variability studies.
Rubino F; Piredda R; Calabrese FM; Simone D; Lang M; Calabrese C; Petruzzella V; Tommaseo-Ponzetta M; Gasparre G; Attimonelli M
Nucleic Acids Res; 2012 Jan; 40(Database issue):D1150-9. PubMed ID: 22139932
[TBL] [Abstract][Full Text] [Related]
13. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
Schwarz JM; Hombach D; Köhler S; Cooper DN; Schuelke M; Seelow D
Nucleic Acids Res; 2019 Jul; 47(W1):W106-W113. PubMed ID: 31106382
[TBL] [Abstract][Full Text] [Related]
14. Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer.
de Bruijn I; Li X; Sumer SO; Gross B; Sheridan R; Ochoa A; Wilson M; Wang A; Zhang H; Lisman A; Abeshouse A; Zhang E; Thum A; Sadagopan A; Heins Z; Kandoth C; Rodenburg S; Tan S; Lukasse P; van Hagen S; Fijneman RJA; Meijer GA; Schultz N; Gao J
JCO Clin Cancer Inform; 2022 Feb; 6():e2100144. PubMed ID: 35148171
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations.
K S; Jalali S; Scaria V; Bhardwaj A
PLoS One; 2013; 8(4):e60066. PubMed ID: 23585830
[TBL] [Abstract][Full Text] [Related]
18. A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
Santorsola M; Calabrese C; Girolimetti G; Diroma MA; Gasparre G; Attimonelli M
Hum Genet; 2016 Jan; 135(1):121-36. PubMed ID: 26621530
[TBL] [Abstract][Full Text] [Related]
19. AGORA: organellar genome annotation from the amino acid and nucleotide references.
Jung J; Kim JI; Jeong YS; Yi G
Bioinformatics; 2018 Aug; 34(15):2661-2663. PubMed ID: 29617954
[TBL] [Abstract][Full Text] [Related]
20. MitoZoa 2.0: a database resource and search tools for comparative and evolutionary analyses of mitochondrial genomes in Metazoa.
D'Onorio de Meo P; D'Antonio M; Griggio F; Lupi R; Borsani M; Pavesi G; Castrignanò T; Pesole G; Gissi C
Nucleic Acids Res; 2012 Jan; 40(Database issue):D1168-72. PubMed ID: 22123747
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
