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 *

260 related articles for article (PubMed ID: 27418169)

  • 1. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.
    Petrovski S; Goldstein DB
    Genome Biol; 2016 Jul; 17(1):157. PubMed ID: 27418169
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The burden of pathogenic variants in clinically actionable genes in a founder population.
    Lynch MT; Maloney KA; Pollin TI; Streeten EA; Xu H; ; Shuldiner AR; Van Hout CV; Gonzaga-Jauregui C; Mitchell BD
    Am J Med Genet A; 2021 Nov; 185(11):3476-3484. PubMed ID: 34467620
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
    Hunter JE; Irving SA; Biesecker LG; Buchanan A; Jensen B; Lee K; Martin CL; Milko L; Muessig K; Niehaus AD; O'Daniel J; Piper MA; Ramos EM; Schully SD; Scott AF; Slavotinek A; Sobreira N; Strande N; Weaver M; Webber EM; Williams MS; Berg JS; Evans JP; Goddard KA
    Genet Med; 2016 Dec; 18(12):1258-1268. PubMed ID: 27124788
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa.
    Kotze M
    S Afr Med J; 2016 May; 106(6 Suppl 1):S114-8. PubMed ID: 27245544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
    Bylstra Y; Kuan JL; Lim WK; Bhalshankar JD; Teo JX; Davila S; Teh BT; Rozen S; Tan EC; Liew WKM; Yeo KK; Tan P; ; Saw SM; Cheng CY; Cook S; Foo R; Jamuar SS
    Genet Med; 2019 Jan; 21(1):207-212. PubMed ID: 29961769
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
    McInnes G; Sharo AG; Koleske ML; Brown JEH; Norstad M; Adhikari AN; Wang S; Brenner SE; Halpern J; Koenig BA; Magnus DC; Gallagher RC; Giacomini KM; Altman RB
    Am J Hum Genet; 2021 Apr; 108(4):535-548. PubMed ID: 33798442
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.
    Eichler EE
    N Engl J Med; 2019 Jul; 381(1):64-74. PubMed ID: 31269367
    [No Abstract]   [Full Text] [Related]  

  • 10. How to design a national genomic project-a systematic review of active projects.
    Kovanda A; Zimani AN; Peterlin B
    Hum Genomics; 2021 Mar; 15(1):20. PubMed ID: 33761998
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Exome sequencing a review of new strategies for rare genomic disease research.
    Brown TL; Meloche TM
    Genomics; 2016 Oct; 108(3-4):109-114. PubMed ID: 27387609
    [TBL] [Abstract][Full Text] [Related]  

  • 13. What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation.
    Tabor HK; Goldenberg A
    AMA J Ethics; 2018 Sep; 20(9):E834-840. PubMed ID: 30242814
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genomics of rare genetic diseases-experiences from India.
    ; Sivasubbu S; Scaria V
    Hum Genomics; 2019 Sep; 14(1):52. PubMed ID: 31554517
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.
    Sosa MX; Sivakumar IK; Maragh S; Veeramachaneni V; Hariharan R; Parulekar M; Fredrikson KM; Harkins TT; Lin J; Feldman AB; Tata P; Ehret GB; Chakravarti A
    PLoS Comput Biol; 2012; 8(10):e1002737. PubMed ID: 23133345
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic Sequencing Expansion and Incomplete Penetrance.
    Shieh JTC
    Pediatrics; 2019 Jan; 143(Suppl 1):S22-S26. PubMed ID: 30600267
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
    Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
    Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.