Emerging Technologies for Gene Identification in Rare Diseases
作者： Filippo Beleggia , Bernd Wollnik
DOI: 10.1007/978-94-017-9214-1_3
关键词:
摘要: Rare diseases are a heavy burden on affected individuals and, collectively, society. Since most rare have genetic cause, the identification of disease-causing genes is first step in unravelling pathogenic mechanisms and search for specific therapeutic options. New technologies based Next Generation Sequencing (NGS) greatly facilitate discovery genes, especially when coupled with efficient data-analysis strategy. Additionally, NGS slowly entering clinical arena as diagnostic tool diseases, drastically reducing time required to arrive at correct diagnosis.
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