286 related articles for article (PubMed ID: 32340307)
1. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D
Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307
[TBL] [Abstract][Full Text] [Related]
2. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP; Washington NL; Buske OJ; Adams DR; Davis J; Draper D; Flynn ED; Girdea M; Godfrey R; Golas G; Groden C; Jacobsen J; Köhler S; Lee EM; Links AE; Markello TC; Mungall CJ; Nehrebecky M; Robinson PN; Sincan M; Soldatos AG; Tifft CJ; Toro C; Trang H; Valkanas E; Vasilevsky N; Wahl C; Wolfe LA; Boerkoel CF; Brudno M; Haendel MA; Gahl WA; Smedley D
Genet Med; 2016 Jun; 18(6):608-17. PubMed ID: 26562225
[TBL] [Abstract][Full Text] [Related]
3. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Thompson R; Papakonstantinou Ntalis A; Beltran S; Töpf A; de Paula Estephan E; Polavarapu K; 't Hoen PAC; Missier P; Lochmüller H
Hum Mutat; 2019 Oct; 40(10):1797-1812. PubMed ID: 31231902
[TBL] [Abstract][Full Text] [Related]
4. A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.
Requena T; Gallego-Martinez A; Lopez-Escamez JA
Hum Genomics; 2017 May; 11(1):11. PubMed ID: 28532469
[TBL] [Abstract][Full Text] [Related]
5. Next-generation diagnostics and disease-gene discovery with the Exomiser.
Smedley D; Jacobsen JO; Jäger M; Köhler S; Holtgrewe M; Schubach M; Siragusa E; Zemojtel T; Buske OJ; Washington NL; Bone WP; Haendel MA; Robinson PN
Nat Protoc; 2015 Dec; 10(12):2004-15. PubMed ID: 26562621
[TBL] [Abstract][Full Text] [Related]
6. Improved exome prioritization of disease genes through cross-species phenotype comparison.
Robinson PN; Köhler S; Oellrich A; ; Wang K; Mungall CJ; Lewis SE; Washington N; Bauer S; Seelow D; Krawitz P; Gilissen C; Haendel M; Smedley D
Genome Res; 2014 Feb; 24(2):340-8. PubMed ID: 24162188
[TBL] [Abstract][Full Text] [Related]
7. Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E; Muñoz-Barrera A; Jáspez D; Rubio-Rodríguez LA; Mendoza-Alvarez A; Rodriguez-Perez H; Jou J; Iñigo-Campos A; Corrales A; Ciuffreda L; Martinez-Bugallo F; Prieto-Morin C; García-Olivares V; González-Montelongo R; Lorenzo-Salazar JM; Marcelino-Rodriguez I; Flores C
Hum Mutat; 2022 Dec; 43(12):2010-2020. PubMed ID: 36054330
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Jacobsen JOB; Kelly C; Cipriani V; Robinson PN; Smedley D
Brief Bioinform; 2022 Sep; 23(5):. PubMed ID: 35595299
[TBL] [Abstract][Full Text] [Related]
9. Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
Lee B; Nasanovsky L; Shen L; Maglinte DT; Pan Y; Gai X; Schmidt RJ; Raca G; Biegel JA; Roytman M; An P; Saunders CJ; Farrow EG; Shams S; Ji J
J Mol Diagn; 2024 May; 26(5):337-348. PubMed ID: 38360210
[TBL] [Abstract][Full Text] [Related]
10. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Köhler S; Øien NC; Buske OJ; Groza T; Jacobsen JOB; McNamara C; Vasilevsky N; Carmody LC; Gourdine JP; Gargano M; McMurry JA; Danis D; Mungall CJ; Smedley D; Haendel M; Robinson PN
Curr Protoc Hum Genet; 2019 Sep; 103(1):e92. PubMed ID: 31479590
[TBL] [Abstract][Full Text] [Related]
11. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
James RA; Campbell IM; Chen ES; Boone PM; Rao MA; Bainbridge MN; Lupski JR; Yang Y; Eng CM; Posey JE; Shaw CA
Genome Med; 2016 Feb; 8(1):13. PubMed ID: 26838676
[TBL] [Abstract][Full Text] [Related]
12. Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.
Pengelly RJ; Alom T; Zhang Z; Hunt D; Ennis S; Collins A
Sci Rep; 2017 Oct; 7(1):13509. PubMed ID: 29044180
[TBL] [Abstract][Full Text] [Related]
13. eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M; Drechsel O; Rahman R; Muyas F; Rabionet R; Bezdan D; Domenech Salgado L; Hor H; Schott JJ; Munell F; Colobran R; Macaya A; Estivill X; Ossowski S
Hum Mutat; 2019 Jul; 40(7):865-878. PubMed ID: 31026367
[TBL] [Abstract][Full Text] [Related]
14. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
Masino AJ; Dechene ET; Dulik MC; Wilkens A; Spinner NB; Krantz ID; Pennington JW; Robinson PN; White PS
BMC Bioinformatics; 2014 Jul; 15(1):248. PubMed ID: 25047600
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools.
Fan Y; Zhou Y; Liu H; Luo X; Xu T; Sun Y; Yang T; Chen L; Gu X; Yu Y
Clin Genet; 2023 Feb; 103(2):190-199. PubMed ID: 36309956
[TBL] [Abstract][Full Text] [Related]
17. Phenotype-aware prioritisation of rare Mendelian disease variants.
Kelly C; Szabo A; Pontikos N; Arno G; Robinson PN; Jacobsen JOB; Smedley D; Cipriani V
Trends Genet; 2022 Dec; 38(12):1271-1283. PubMed ID: 35934592
[TBL] [Abstract][Full Text] [Related]
18. Prioritization of oligogenic variant combinations in whole exomes.
Gravel B; Renaux A; Papadimitriou S; Smits G; Nowé A; Lenaerts T
Bioinformatics; 2024 Mar; 40(4):. PubMed ID: 38603604
[TBL] [Abstract][Full Text] [Related]
19. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing.
Tomar S; Sethi R; Lai PS
Eur J Hum Genet; 2019 Sep; 27(9):1389-1397. PubMed ID: 31053788
[TBL] [Abstract][Full Text] [Related]
20. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Thuriot F; Buote C; Gravel E; Chénier S; Désilets V; Maranda B; Waters PJ; Jacques PE; Lévesque S
Genet Med; 2018 Sep; 20(9):942-949. PubMed ID: 29388948
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
