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Molecular Genetics in the Next Generation Sequencing Era

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Mitochondrial Diseases

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Abstract

The increasingly pervasive adoption of Next Generation Sequencing (NGS) technologies is causing a revolution in biomedical research and, particularly, is transforming health care. This flood of data has had an enormous impact on the discovery biomarkers for diagnosis, prognosis and treatment recommendation. However, the enormous generation of data produced by NGS needs of new methodologies and new strategies to deal with them and to properly interpreting the derived findings. Actually, it has soon be apparent that the concept of biomarker has a limited utility in pathologies or scenarios other than highly penetrant inherited diseases. Approaches to interpret the genetic variation in complex diseases need to take into account the complex system nature of the relationships of the proteins that conforms the mechanism of the disease. Systems biology offers a framework to understand the extensive human genetic heterogeneity revealed by genomic sequencing in the context of complex the network of functional, regulatory and physical interactions Consequently, modeling and computational data analysis will play an increasingly important role in drug discovery along with new emerging applications of Artificial Intelligence in medicine.

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Notes

  1. 1.

    https://tcga-data.nci.nih.gov/docs/publications/tcga/

  2. 2.

    http://exac.broadinstitute.org/

  3. 3.

    http://www.bbc.com/news/health-25216135

  4. 4.

    http://news.sciencemag.org/biology/2015/01/white-house-fleshes-out-obama-s-215-million-plan-precision-medicine

  5. 5.

    https://ec.europa.eu/digital-single-market/en/news/eu-countries-will-cooperate-linking-genomic-databases-across-borders

  6. 6.

    https://www.ensembl.org/info/genome/variation/prediction/predicted_data.html

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  1. Clinical Bioinformatics Area, Progress and Health Foundation, Hospital Virgen del Rocio, c/Manuel Siurot s/n, Sevilla, Spain

    Joaquin Dopazo

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  1. Centro Andaluz Biología del Desarrollo and CIBERER, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CSIC, Sevilla, Spain

    Placido Navas

  2. Department of Women’s and Children’s Health, University of Padova and IRP Città della Speranza, Padova, Italy

    Leonardo Salviati

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Dopazo, J. (2021). Molecular Genetics in the Next Generation Sequencing Era. In: Navas, P., Salviati, L. (eds) Mitochondrial Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-70147-5_9

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