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 *

400 related articles for article (PubMed ID: 29423790)

  • 1. Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era.
    DiStefano JK; Kingsley CB
    Methods Mol Biol; 2018; 1706():3-16. PubMed ID: 29423790
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.
    Abou Tayoun AN; Krock B; Spinner NB
    Expert Rev Mol Diagn; 2016 Sep; 16(9):987-99. PubMed ID: 27388938
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.
    Precone V; Del Monaco V; Esposito MV; De Palma FD; Ruocco A; Salvatore F; D'Argenio V
    Biomed Res Int; 2015; 2015():161648. PubMed ID: 26665001
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genetic analysis of hereditary hematological disorders: overview].
    Yoshida K; Ogawa S
    Rinsho Ketsueki; 2015 Jul; 56(7):861-6. PubMed ID: 26251150
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
    Rabbani B; Mahdieh N; Hosomichi K; Nakaoka H; Inoue I
    J Hum Genet; 2012 Oct; 57(10):621-32. PubMed ID: 22832387
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The clinical implications of molecular monitoring and analyses of inherited retinal diseases.
    Chacón-Camacho OF; García-Montaño LA; Zenteno JC
    Expert Rev Mol Diagn; 2017 Nov; 17(11):1009-1021. PubMed ID: 28945154
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Review of Clinical Next-Generation Sequencing.
    Yohe S; Thyagarajan B
    Arch Pathol Lab Med; 2017 Nov; 141(11):1544-1557. PubMed ID: 28782984
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome and genome sequencing for inborn errors of immunity.
    Meyts I; Bosch B; Bolze A; Boisson B; Itan Y; Belkadi A; Pedergnana V; Moens L; Picard C; Cobat A; Bossuyt X; Abel L; Casanova JL
    J Allergy Clin Immunol; 2016 Oct; 138(4):957-969. PubMed ID: 27720020
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Application of next generation sequencing to molecular diagnosis of inherited diseases.
    Zhang W; Cui H; Wong LJ
    Top Curr Chem; 2014; 336():19-45. PubMed ID: 22576358
    [TBL] [Abstract][Full Text] [Related]  

  • 12. NGS for Sequence Variants.
    Teng S
    Adv Exp Med Biol; 2016; 939():1-20. PubMed ID: 27807741
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
    de Koning TJ; Jongbloed JD; Sikkema-Raddatz B; Sinke RJ
    Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A survey of tools for variant analysis of next-generation genome sequencing data.
    Pabinger S; Dander A; Fischer M; Snajder R; Sperk M; Efremova M; Krabichler B; Speicher MR; Zschocke J; Trajanoski Z
    Brief Bioinform; 2014 Mar; 15(2):256-78. PubMed ID: 23341494
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.
    Strande NT; Berg JS
    Annu Rev Genomics Hum Genet; 2016 Aug; 17():303-32. PubMed ID: 27362341
    [TBL] [Abstract][Full Text] [Related]  

  • 16. VarAFT: a variant annotation and filtration system for human next generation sequencing data.
    Desvignes JP; Bartoli M; Delague V; Krahn M; Miltgen M; Béroud C; Salgado D
    Nucleic Acids Res; 2018 Jul; 46(W1):W545-W553. PubMed ID: 29860484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting.
    Ellard S; Patrinos GP; Oetting WS
    Hum Mutat; 2013 Nov; 34(11):1583-7. PubMed ID: 23956188
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.
    Picard C; Fischer A
    Eur J Immunol; 2014 Oct; 44(10):2854-61. PubMed ID: 25154746
    [TBL] [Abstract][Full Text] [Related]  

  • 19. exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
    Maranhao B; Biswas P; Duncan JL; Branham KE; Silva GA; Naeem MA; Khan SN; Riazuddin S; Hejtmancik JF; Heckenlively JR; Riazuddin SA; Lee PL; Ayyagari R
    Genomics; 2014; 103(2-3):169-76. PubMed ID: 24603341
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
    Qin L; Wang J; Tian X; Yu H; Truong C; Mitchell JJ; Wierenga KJ; Craigen WJ; Zhang VW; Wong LC
    J Mol Diagn; 2016 May; 18(3):446-453. PubMed ID: 26944031
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.