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转录组测序在孟德尔遗传病临床诊断中的应用进展
Gene panel and whole exome sequencing are now commonly used to detect Mendelian disease, but the current molecular diagnostic rate of DNA sequencing is only 35%-50%. In recent years, RNA sequencing emerges as a promising diagnostic method. It can detect new pathogenic mutations, and analyze allele-s...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
中国当代儿科杂志编辑部
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7568994/ https://ncbi.nlm.nih.gov/pubmed/33059815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2005004 |
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