These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 25590976)

  • 1. Symptom-driven idiopathic disease gene identification.
    Molparia B; Pham PH; Torkamani A
    Genet Med; 2015 Nov; 17(11):859-65. PubMed ID: 25590976
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
    Pal LR; Kundu K; Yin Y; Moult J
    Hum Mutat; 2020 Feb; 41(2):347-362. PubMed ID: 31680375
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.
    Dand N; Schulz R; Weale ME; Southgate L; Oakey RJ; Simpson MA; Schlitt T
    Hum Mutat; 2015 Dec; 36(12):1135-44. PubMed ID: 26394720
    [TBL] [Abstract][Full Text] [Related]  

  • 5. OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
    Boudellioua I; Kulmanov M; Schofield PN; Gkoutos GV; Hoehndorf R
    Sci Rep; 2018 Oct; 8(1):14681. PubMed ID: 30279426
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A random set scoring model for prioritization of disease candidate genes using protein complexes and data-mining of GeneRIF, OMIM and PubMed records.
    Jiang L; Edwards SM; Thomsen B; Workman CT; Guldbrandtsen B; Sørensen P
    BMC Bioinformatics; 2014 Sep; 15(1):315. PubMed ID: 25253562
    [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. 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]  

  • 10. 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]  

  • 11. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.
    Wang J; Zhao L; Wang X; Chen Y; Xu M; Soens ZT; Ge Z; Wang PR; Wang F; Chen R
    Genome Biol; 2018 Nov; 19(1):203. PubMed ID: 30477545
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.
    Sayyab S; Viluma A; Bergvall K; Brunberg E; Jagannathan V; Leeb T; Andersson G; Bergström TF
    G3 (Bethesda); 2016 Jan; 6(3):521-7. PubMed ID: 26747202
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identifying Mendelian disease genes with the variant effect scoring tool.
    Carter H; Douville C; Stenson PD; Cooper DN; Karchin R
    BMC Genomics; 2013; 14 Suppl 3(Suppl 3):S3. PubMed ID: 23819870
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.
    Abramovs N; Brass A; Tassabehji M
    Nat Genet; 2020 Jan; 52(1):35-39. PubMed ID: 31873297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and Analysis of Genes Associated with Inherited Retinal Diseases.
    Khan M; Fadaie Z; Cornelis SS; Cremers FPM; Roosing S
    Methods Mol Biol; 2019; 1834():3-27. PubMed ID: 30324433
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Disease gene discovery through integrative genomics.
    Giallourakis C; Henson C; Reich M; Xie X; Mootha VK
    Annu Rev Genomics Hum Genet; 2005; 6():381-406. PubMed ID: 16124867
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
    Oliver GR; Tang X; Schultz-Rogers LE; Vidal-Folch N; Jenkinson WG; Schwab TL; Gaonkar K; Cousin MA; Nair A; Basu S; Chanana P; Oglesbee D; Klee EW
    PLoS One; 2019; 14(10):e0223337. PubMed ID: 31577830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pinpointing disease genes through phenomic and genomic data fusion.
    Jiang R; Wu M; Li L
    BMC Genomics; 2015; 16 Suppl 2(Suppl 2):S3. PubMed ID: 25708473
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prioritization of candidate disease genes by enlarging the seed set and fusing information of the network topology and gene expression.
    Zhang SW; Shao DD; Zhang SY; Wang YB
    Mol Biosyst; 2014 Jun; 10(6):1400-8. PubMed ID: 24695957
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Speeding disease gene discovery by sequence based candidate prioritization.
    Adie EA; Adams RR; Evans KL; Porteous DJ; Pickard BS
    BMC Bioinformatics; 2005 Mar; 6():55. PubMed ID: 15766383
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.