Since Jul 14, 2010
Genetics and Genomics
190 5062
Mon October 10th, 2016
Next generation sequencing is used in the sequencing technologies that immensely parallelize the DNA sequencing process rather than limited few fragments or to a single of DNA.
Get Exclusive Insights of this Study - The next generation sequencing (NGS) technology permits rapid sequencing and yields thousands and millions of sequences in single run using next generation sequencers. Such technologies have been rapidly developing owing to the constant demand for high-throughput sequencers which incline to lesser the cost of DNA sequencing. According to the Department of Biology, University of Copenhagen, There are almost 7000 rare diseases that have been reported globally. Although most of them occur with an incidence of less than one in 2000, in total around 6% of the population suffers from rare diseases. These rare diseases are mostly caused by changes in genes, which is presently lack of effective treatment. The quick advancement of next generation sequencing technology boosts the discovery of new causative gene for these rare diseases, as well as the genetic diagnosis in clinic practice. The innovation of cell-free fetal DNA, coupling with next generation sequencing, makes NIPT possible for rare diseases. However, for most of the current routine prenatal genetic testing for rare diseases require collection of fetal samples through an invasive process, which sometimes might lead to maternal anxiety, or even lead to miscarriage. Hence, developing an effective method to perform noninvasive prenatal test (NIPT) for rare diseases is the crucial challenge to inhibit birth defect in the future.

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