567 related articles for article (PubMed ID: 26838676)
1. 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]
2. Genome analysis and knowledge-driven variant interpretation with TGex.
Dahary D; Golan Y; Mazor Y; Zelig O; Barshir R; Twik M; Iny Stein T; Rosner G; Kariv R; Chen F; Zhang Q; Shen Y; Safran M; Lancet D; Fishilevich S
BMC Med Genomics; 2019 Dec; 12(1):200. PubMed ID: 31888639
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
Kernohan KD; Hartley T; Alirezaie N; ; Robinson PN; Dyment DA; Boycott KM
Hum Mutat; 2018 Feb; 39(2):197-201. PubMed ID: 29193559
[TBL] [Abstract][Full Text] [Related]
7. MARV: a tool for genome-wide multi-phenotype analysis of rare variants.
Kaakinen M; Mägi R; Fischer K; Heikkinen J; Järvelin MR; Morris AP; Prokopenko I
BMC Bioinformatics; 2017 Feb; 18(1):110. PubMed ID: 28209135
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.
Antanaviciute A; Watson CM; Harrison SM; Lascelles C; Crinnion L; Markham AF; Bonthron DT; Carr IM
Bioinformatics; 2015 Dec; 31(23):3822-9. PubMed ID: 26272982
[TBL] [Abstract][Full Text] [Related]
11. VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Müller H; Jimenez-Heredia R; Krolo A; Hirschmugl T; Dmytrus J; Boztug K; Bock C
Nucleic Acids Res; 2017 Jul; 45(W1):W567-W572. PubMed ID: 28520890
[TBL] [Abstract][Full Text] [Related]
12. Inferred inheritance of MorbidMap genes without OMIM clinical synopsis.
Shakir A; Ripperger M; Jiang Z; Wierenga KJ
Genet Med; 2018 Apr; 20(4):470-473. PubMed ID: 28837159
[TBL] [Abstract][Full Text] [Related]
13. mGAP: the macaque genotype and phenotype resource, a framework for accessing and interpreting macaque variant data, and identifying new models of human disease.
Bimber BN; Yan MY; Peterson SM; Ferguson B
BMC Genomics; 2019 Mar; 20(1):176. PubMed ID: 30841849
[TBL] [Abstract][Full Text] [Related]
14. Semantic prioritization of novel causative genomic variants.
Boudellioua I; Mahamad Razali RB; Kulmanov M; Hashish Y; Bajic VB; Goncalves-Serra E; Schoenmakers N; Gkoutos GV; Schofield PN; Hoehndorf R
PLoS Comput Biol; 2017 Apr; 13(4):e1005500. PubMed ID: 28414800
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Yuan X; Wang J; Dai B; Sun Y; Zhang K; Chen F; Peng Q; Huang Y; Zhang X; Chen J; Xu X; Chuan J; Mu W; Li H; Fang P; Gong Q; Zhang P
Brief Bioinform; 2022 Mar; 23(2):. PubMed ID: 35134823
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Diagnostics in human genetics : Integration of phenotypic and genomic data].
Köhler S; Robinson PN
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2017 May; 60(5):542-549. PubMed ID: 28293716
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.
Saklatvala JR; Dand N; Simpson MA
Hum Mutat; 2018 May; 39(5):643-652. PubMed ID: 29460986
[TBL] [Abstract][Full Text] [Related]
20. VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
Stelzer G; Plaschkes I; Oz-Levi D; Alkelai A; Olender T; Zimmerman S; Twik M; Belinky F; Fishilevich S; Nudel R; Guan-Golan Y; Warshawsky D; Dahary D; Kohn A; Mazor Y; Kaplan S; Iny Stein T; Baris HN; Rappaport N; Safran M; Lancet D
BMC Genomics; 2016 Jun; 17 Suppl 2(Suppl 2):444. PubMed ID: 27357693
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
