Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

Autor: Howard, Heidi, Knoppers, Bartha Maria, Cornel, Martina C, Wright Clayton, Ellen, Sénécal, Karine, Borry, Pascal, endorsed by the European Society of Human Genetics

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 23(12), 1593-1600. Nature Publishing Group
Howard, H C, Knoppers, B M, Cornel, M C, Wright Clayton, E, Senecal, K & Borry, P 2015, ' Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes ', European Journal of Human Genetics, vol. 23, no. 12, pp. 1593-1600 . https://doi.org/10.1038/ejhg.2014.289

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and wh

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