BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

546 related articles for article (PubMed ID: 27388938)

  • 1. 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]  

  • 2. 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]  

  • 3. Next generation sequencing: the technology we need in pediatric laboratories?
    Couderc R; Jonard L; Louha M
    Clin Biochem; 2011 May; 44(7):514-515. PubMed ID: 22036354
    [No 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. 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]  

  • 6. Exploiting the potential of next-generation sequencing in genomic medicine.
    Pinto AM; Ariani F; Bianciardi L; Daga S; Renieri A
    Expert Rev Mol Diagn; 2016 Sep; 16(9):1037-47. PubMed ID: 27574853
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
    Bacchelli C; Williams HJ
    Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.
    Smith A; Boycott KM; Jarinova O
    Hum Mutat; 2014 Feb; 35(2):265-9. PubMed ID: 24282140
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.
    Milko LV; Rini C; Lewis MA; Butterfield RM; Lin FC; Paquin RS; Powell BC; Roche MI; Souris KJ; Bailey DB; Berg JS; Powell CM
    Trials; 2018 Jun; 19(1):344. PubMed ID: 29950170
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
    Chakravorty S; Hegde M
    Annu Rev Genomics Hum Genet; 2017 Aug; 18():229-256. PubMed ID: 28415856
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular diagnostics for hereditary hearing loss in children.
    Sommen M; Wuyts W; Van Camp G
    Expert Rev Mol Diagn; 2017 Aug; 17(8):751-760. PubMed ID: 28593790
    [TBL] [Abstract][Full Text] [Related]  

  • 12. How next-generation sequencing is transforming complex disease genetics.
    Kilpinen H; Barrett JC
    Trends Genet; 2013 Jan; 29(1):23-30. PubMed ID: 23103023
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
    Vrijenhoek T; Kraaijeveld K; Elferink M; de Ligt J; Kranendonk E; Santen G; Nijman IJ; Butler D; Claes G; Costessi A; Dorlijn W; van Eyndhoven W; Halley DJ; van den Hout MC; van Hove S; Johansson LF; Jongbloed JD; Kamps R; Kockx CE; de Koning B; Kriek M; Lekanne Dit Deprez R; Lunstroo H; Mannens M; Mook OR; Nelen M; Ploem C; Rijnen M; Saris JJ; Sinke R; Sistermans E; van Slegtenhorst M; Sleutels F; van der Stoep N; van Tienhoven M; Vermaat M; Vogel M; Waisfisz Q; Marjan Weiss J; van den Wijngaard A; van Workum W; Ijntema H; van der Zwaag B; van IJcken WF; den Dunnen J; Veltman JA; Hennekam R; Cuppen E
    Eur J Hum Genet; 2015 Sep; 23(9):1142-50. PubMed ID: 25626705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Opportunities and challenges of whole-genome and -exome sequencing.
    Petersen BS; Fredrich B; Hoeppner MP; Ellinghaus D; Franke A
    BMC Genet; 2017 Feb; 18(1):14. PubMed ID: 28193154
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan.
    Shimazawa R; Ikeda M
    Expert Rev Mol Diagn; 2020 Jun; 20(6):601-610. PubMed ID: 32064968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ten years of next-generation sequencing technology.
    van Dijk EL; Auger H; Jaszczyszyn Y; Thermes C
    Trends Genet; 2014 Sep; 30(9):418-26. PubMed ID: 25108476
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
    Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
    Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 28.