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 *

308 related articles for article (PubMed ID: 26483451)

  • 1. The human gene damage index as a gene-level approach to prioritizing exome variants.
    Itan Y; Shang L; Boisson B; Patin E; Bolze A; Moncada-Vélez M; Scott E; Ciancanelli MJ; Lafaille FG; Markle JG; Martinez-Barricarte R; de Jong SJ; Kong XF; Nitschke P; Belkadi A; Bustamante J; Puel A; Boisson-Dupuis S; Stenson PD; Gleeson JG; Cooper DN; Quintana-Murci L; Claverie JM; Zhang SY; Abel L; Casanova JL
    Proc Natl Acad Sci U S A; 2015 Nov; 112(44):13615-20. PubMed ID: 26483451
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 5. FLAGS, frequently mutated genes in public exomes.
    Shyr C; Tarailo-Graovac M; Gottlieb M; Lee JJ; van Karnebeek C; Wasserman WW
    BMC Med Genomics; 2014 Dec; 7():64. PubMed ID: 25466818
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.
    Li MX; Gui HS; Kwan JS; Bao SY; Sham PC
    Nucleic Acids Res; 2012 Apr; 40(7):e53. PubMed ID: 22241780
    [TBL] [Abstract][Full Text] [Related]  

  • 7. mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.
    Li J; Jiang Y; Wang T; Chen H; Xie Q; Shao Q; Ran X; Xia K; Sun ZS; Wu J
    J Med Genet; 2015 Apr; 52(4):275-81. PubMed ID: 25596308
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.
    Requena D; Maffucci P; Bigio B; Shang L; Abhyankar A; Boisson B; Stenson PD; Cooper DN; Cunningham-Rundles C; Casanova JL; Abel L; Itan Y
    Front Immunol; 2018; 9():1340. PubMed ID: 29997612
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome versus transcriptome sequencing in identifying coding region variants.
    Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
    Expert Rev Mol Diagn; 2012 Apr; 12(3):241-51. PubMed ID: 22468815
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genic intolerance to functional variation and the interpretation of personal genomes.
    Petrovski S; Wang Q; Heinzen EL; Allen AS; Goldstein DB
    PLoS Genet; 2013; 9(8):e1003709. PubMed ID: 23990802
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome screening to identify loss-of-function mutations in the rhesus macaque for development of preclinical models of human disease.
    Cornish AS; Gibbs RM; Norgren RB
    BMC Genomics; 2016 Mar; 17():170. PubMed ID: 26935327
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
    Song D; Li N; Liao L
    Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
    Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
    Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detecting false-positive signals in exome sequencing.
    Fuentes Fajardo KV; Adams D; ; Mason CE; Sincan M; Tifft C; Toro C; Boerkoel CF; Gahl W; Markello T
    Hum Mutat; 2012 Apr; 33(4):609-13. PubMed ID: 22294350
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.
    Hsu JS; Kwan JS; Pan Z; Garcia-Barcelo MM; Sham PC; Li M
    Bioinformatics; 2016 Oct; 32(20):3065-3071. PubMed ID: 27354691
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
    Waldmüller S; Schroeder C; Sturm M; Scheffold T; Imbrich K; Junker S; Frische C; Hofbeck M; Bauer P; Bonin M; Gawaz M; Gramlich M
    Mol Cell Probes; 2015 Oct; 29(5):308-14. PubMed ID: 25979592
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.
    Brown R; Lee H; Eskin A; Kichaev G; Lohmueller KE; Reversade B; Nelson SF; Pasaniuc B
    Eur J Hum Genet; 2016 Jan; 24(1):113-9. PubMed ID: 25898925
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A gradient-boosting approach for filtering de novo mutations in parent-offspring trios.
    Liu Y; Li B; Tan R; Zhu X; Wang Y
    Bioinformatics; 2014 Jul; 30(13):1830-6. PubMed ID: 24618463
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing analysis: a guide to disease variant detection.
    Isakov O; Perrone M; Shomron N
    Methods Mol Biol; 2013; 1038():137-58. PubMed ID: 23872973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.