High-throughput sequencing and rare genetic diseases.
نویسندگان
چکیده
High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.
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عنوان ژورنال:
- Molecular syndromology
دوره 3 5 شماره
صفحات -
تاریخ انتشار 2012