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2020, Number 1

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Rev Cub Gen 2020; 13 (1)

Molecular biology techniques applied to the diagnosis of genetic diseases

Collazo MT

Language: Spanish
References: 9
Page: 1-4
PDF size: 355.46 Kb.


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REFERENCES

  1. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science. 2001;291(5507):1304-51. Erratum in: Science 2001;292(5523):1838.

  2. International HapMap Consortium. A Haplotype Map of the Human Genome. Nature. 2005;437(7063):1299-320.

  3. Rodríguez-Santiago B, Armengol L. Tecnologías de secuenciación de nueva generación en diagnóstico genético pre- y postnatal. Diagnóstico Prenat. 2012;23(2):56-66. DOI: https://doi.org/10.1016/j.diapre.2012.02.001

  4. Di resta C, Galbiati S, Carrera P, Ferrari M. Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC. 2018 Apr;29(1):4-14.

  5. Zhang W, Dolan ME. Impact of the 1000 genomes project on the next wave of pharmacogenomic discovery. Pharmacogenomics. 2010;11(2):249-56.

  6. Imágenes de US National Library of Medicine National Institutes of Health. [acceso 02/05/2015]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/

  7. Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014;16:176-82.

  8. Xue Yankala A, Wilcox W, Hegde M. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/ genome sequencing. Genet Med advance. 2014;17(6):444-51 [acceso 18/09/2014]. Disponible en: https://www.nature.com

  9. Harripaul R, Noor A, Ayub M, Vincent JB. The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability. Cold Spring Harb Perspect Med. 2017 Mar;7(3):a026864. [acceso 18/09/2017]. Disponible en: https://www.researchgate.net/publication/314160558_The_Use_of_Next-Generation_Sequencing_for_Research_and_Diagnostics_for_Intellectual_Disability




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