تحميل...
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations
Whole-exome sequencing (WES) is a useful method to identify disease-causing mutations, however, often no candidate mutations are identified using commonly available targeted probe sets. In a recent analysis, we also could not find candidate mutations for 20.9% (9/43) of our pedigrees with congenital...
محفوظ في:
| الحاوية / القاعدة: | Sci Rep |
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| المؤلفون الرئيسيون: | , , , , , , , , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Nature Publishing Group
2015
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4365396/ https://ncbi.nlm.nih.gov/pubmed/25786579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep09331 |
| الوسوم: |
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