144 related articles for article (PubMed ID: 26378430)
1. Mitigating false-positive associations in rare disease gene discovery.
Akle S; Chun S; Jordan DM; Cassa CA
Hum Mutat; 2015 Oct; 36(10):998-1003. PubMed ID: 26378430
[TBL] [Abstract][Full Text] [Related]
2. GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.
Gottlieb MM; Arenillas DJ; Maithripala S; Maurer ZD; Tarailo Graovac M; Armstrong L; Patel M; van Karnebeek C; Wasserman WW
Hum Mutat; 2015 Apr; 36(4):432-8. PubMed ID: 25703386
[TBL] [Abstract][Full Text] [Related]
3. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira N; Schiettecatte F; Valle D; Hamosh A
Hum Mutat; 2015 Oct; 36(10):928-30. PubMed ID: 26220891
[TBL] [Abstract][Full Text] [Related]
4. Matchmaker Exchange.
Sobreira NLM; Arachchi H; Buske OJ; Chong JX; Hutton B; Foreman J; Schiettecatte F; Groza T; Jacobsen JOB; Haendel MA; Boycott KM; Hamosh A; Rehm HL;
Curr Protoc Hum Genet; 2017 Oct; 95():9.31.1-9.31.15. PubMed ID: 29044468
[TBL] [Abstract][Full Text] [Related]
5. The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Buske OJ; Schiettecatte F; Hutton B; Dumitriu S; Misyura A; Huang L; Hartley T; Girdea M; Sobreira N; Mungall C; Brudno M
Hum Mutat; 2015 Oct; 36(10):922-7. PubMed ID: 26255989
[TBL] [Abstract][Full Text] [Related]
6. PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Buske OJ; Girdea M; Dumitriu S; Gallinger B; Hartley T; Trang H; Misyura A; Friedman T; Beaulieu C; Bone WP; Links AE; Washington NL; Haendel MA; Robinson PN; Boerkoel CF; Adams D; Gahl WA; Boycott KM; Brudno M
Hum Mutat; 2015 Oct; 36(10):931-40. PubMed ID: 26251998
[TBL] [Abstract][Full Text] [Related]
7. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
Sobreira N; Schiettecatte F; Boehm C; Valle D; Hamosh A
Hum Mutat; 2015 Apr; 36(4):425-31. PubMed ID: 25684268
[TBL] [Abstract][Full Text] [Related]
8. Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
Chatzimichali EA; Brent S; Hutton B; Perrett D; Wright CF; Bevan AP; Hurles ME; Firth HV; Swaminathan GJ
Hum Mutat; 2015 Oct; 36(10):941-9. PubMed ID: 26220709
[TBL] [Abstract][Full Text] [Related]
9. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL; O'Leary MC; Lemire G; VanNoy GE; DiTroia S; Ganesh VS; Groopman E; O'Heir E; Mangilog B; Osei-Owusu I; Pais LS; Serrano J; Singer-Berk M; Weisburd B; Wilson MW; Austin-Tse C; Abdelhakim M; Althagafi A; Babbi G; Bellazzi R; Bovo S; Carta MG; Casadio R; Coenen PJ; De Paoli F; Floris M; Gajapathy M; Hoehndorf R; Jacobsen JOB; Joseph T; Kamandula A; Katsonis P; Kint C; Lichtarge O; Limongelli I; Lu Y; Magni P; Mamidi TKK; Martelli PL; Mulargia M; Nicora G; Nykamp K; Pejaver V; Peng Y; Pham THC; Podda MS; Rao A; Rizzo E; Saipradeep VG; Savojardo C; Schols P; Shen Y; Sivadasan N; Smedley D; Soru D; Srinivasan R; Sun Y; Sunderam U; Tan W; Tiwari N; Wang X; Wang Y; Williams A; Worthey EA; Yin R; You Y; Zeiberg D; Zucca S; Bakolitsa C; Brenner SE; Fullerton SM; Radivojac P; Rehm HL; O'Donnell-Luria A
Hum Genomics; 2024 Apr; 18(1):44. PubMed ID: 38685113
[TBL] [Abstract][Full Text] [Related]
10. Participant-driven matchmaking in the genomic era.
Lambertson KF; Damiani SA; Might M; Shelton R; Terry SF
Hum Mutat; 2015 Oct; 36(10):965-73. PubMed ID: 26252162
[TBL] [Abstract][Full Text] [Related]
11. Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Osmond M; Hartley T; Dyment DA; Kernohan KD; Brudno M; Buske OJ; Innes AM; Boycott KM;
Genet Med; 2022 Jan; 24(1):100-108. PubMed ID: 34906465
[TBL] [Abstract][Full Text] [Related]
12. wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.
Li MJ; Deng J; Wang P; Yang W; Ho SL; Sham PC; Wang J; Li M
Hum Mutat; 2015 May; 36(5):496-503. PubMed ID: 25676918
[TBL] [Abstract][Full Text] [Related]
13. Innovative genomic collaboration using the GENESIS (GEM.app) platform.
Gonzalez M; Falk MJ; Gai X; Postrel R; Schüle R; Zuchner S
Hum Mutat; 2015 Oct; 36(10):950-6. PubMed ID: 26173844
[TBL] [Abstract][Full Text] [Related]
14. Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Azzariti DR; Hamosh A
Annu Rev Genomics Hum Genet; 2020 Aug; 21():305-326. PubMed ID: 32339034
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data.
Wu M; Wu J; Chen T; Jiang R
Sci Rep; 2015 Oct; 5():14955. PubMed ID: 26459872
[TBL] [Abstract][Full Text] [Related]
17. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
Boycott KM; Azzariti DR; Hamosh A; Rehm HL
Hum Mutat; 2022 Jun; 43(6):659-667. PubMed ID: 35537081
[TBL] [Abstract][Full Text] [Related]
18. The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA; Azzariti DR; Beltran S; Brookes AJ; Brownstein CA; Brudno M; Brunner HG; Buske OJ; Carey K; Doll C; Dumitriu S; Dyke SO; den Dunnen JT; Firth HV; Gibbs RA; Girdea M; Gonzalez M; Haendel MA; Hamosh A; Holm IA; Huang L; Hurles ME; Hutton B; Krier JB; Misyura A; Mungall CJ; Paschall J; Paten B; Robinson PN; Schiettecatte F; Sobreira NL; Swaminathan GJ; Taschner PE; Terry SF; Washington NL; Züchner S; Boycott KM; Rehm HL
Hum Mutat; 2015 Oct; 36(10):915-21. PubMed ID: 26295439
[TBL] [Abstract][Full Text] [Related]
19. Phenogenon: Gene to phenotype associations for rare genetic diseases.
Pontikos N; Murphy C; Moghul I; Arno G; Fujinami K; Fujinami Y; Sumodhee D; Downes S; Webster A; Yu J;
PLoS One; 2020; 15(4):e0230587. PubMed ID: 32271766
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
