189 related articles for article (PubMed ID: 29044180)
1. 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]
2. 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]
3. 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]
4. 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]
5. A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW; Murugan M; Li H; Khayat MM; Wang L; Rosenfeld J; Andrews BK; Jhangiani SN; Coban Akdemir ZH; Sedlazeck FJ; Ashley-Koch AE; Liu P; Muzny DM; ; Davis EE; Katsanis N; Sabo A; Posey JE; Yang Y; Wangler MF; Eng CM; Sutton VR; Lupski JR; Boerwinkle E; Gibbs RA
Am J Hum Genet; 2019 Nov; 105(5):974-986. PubMed ID: 31668702
[TBL] [Abstract][Full Text] [Related]
6. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T; Köhler S; Mackenroth L; Jäger M; Hecht J; Krawitz P; Graul-Neumann L; Doelken S; Ehmke N; Spielmann M; Oien NC; Schweiger MR; Krüger U; Frommer G; Fischer B; Kornak U; Flöttmann R; Ardeshirdavani A; Moreau Y; Lewis SE; Haendel M; Smedley D; Horn D; Mundlos S; Robinson PN
Sci Transl Med; 2014 Sep; 6(252):252ra123. PubMed ID: 25186178
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
9. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM; du Souich C; Lehman A; Guella I; Evans DM; Candido T; Tooman L; Armstrong L; Clarke L; Gibson W; Gill H; Lavoie PM; Lewis S; McKinnon ML; Nikkel SM; Patel M; Solimano A; Synnes A; Ting J; van Allen M; Christilaw J; Farrer MJ; Friedman JM; Osiovich H
Eur J Pediatr; 2019 Aug; 178(8):1207-1218. PubMed ID: 31172278
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
[TBL] [Abstract][Full Text] [Related]
12. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Son JH; Xie G; Yuan C; Ena L; Li Z; Goldstein A; Huang L; Wang L; Shen F; Liu H; Mehl K; Groopman EE; Marasa M; Kiryluk K; Gharavi AG; Chung WK; Hripcsak G; Friedman C; Weng C; Wang K
Am J Hum Genet; 2018 Jul; 103(1):58-73. PubMed ID: 29961570
[TBL] [Abstract][Full Text] [Related]
13. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
[TBL] [Abstract][Full Text] [Related]
14. Genome-wide significance testing of variation from single case exomes.
Wilfert AB; Chao KR; Kaushal M; Jain S; Zöllner S; Adams DR; Conrad DF
Nat Genet; 2016 Dec; 48(12):1455-1461. PubMed ID: 27776118
[TBL] [Abstract][Full Text] [Related]
15. PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Chen Z; Zheng Y; Yang Y; Huang Y; Zhao S; Zhao H; Yu C; Dong X; Zhang Y; Wang L; Zhao Z; Wang S; Yang Y; Ming Y; Su J; Qiu G; Wu Z; Zhang TJ; Wu N
Am J Hum Genet; 2022 Feb; 109(2):270-281. PubMed ID: 35063063
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.
Ebiki M; Okazaki T; Kai M; Adachi K; Nanba E
Yonago Acta Med; 2019 Sep; 62(3):244-252. PubMed ID: 31582890
[TBL] [Abstract][Full Text] [Related]
20. Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Jagadeesh KA; Birgmeier J; Guturu H; Deisseroth CA; Wenger AM; Bernstein JA; Bejerano G
Genet Med; 2019 Feb; 21(2):464-470. PubMed ID: 29997393
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]